LOVD - Variant listings for HBD

About this overview [Show]

124 public entries
entries per page

Path. Hide Path. column Descending
Ascending

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

HbVar link Hide HbVar link column Descending
Ascending

Disease Hide Disease column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

# Reported Hide # Reported column Descending
Ascending

Disease Mesh ID Hide Disease Mesh ID column Descending
Ascending
+?/? 1 HBD:c.-105T>C - - - - HBD_01417 HbVar delta+ thal dbSNP;Papadakis M et al.; DNA SEQ -55 (T->C) delta+ 1 D013789
+?/? 1 HBD:c.-115A>G - - - - HBD_01416 HbVar delta+ thal dbSNP;Papadakis M et al.; DNA SEQ -65 (A->G) delta+ 1 D013789
+?/? 1 HBD:c.-126A>T - - - - HBD_01435 HbVar delta0 thal (OMIM 0044);dbSNP;Angioletti MD et al.; DNA SEQ -76 (A->T) delta0 1 D013789
+?/? 1 HBD:c.-127T>C - - - - HBD_01415 HbVar delta (0 or + unclear) thal (OMIM 0030);dbSNP;Matsuda M et al.;Nakamura T et al.;Ohta Y et al.; Protein Amino -77 (T->C) delta (0 or + unclear) 1 D013789
+?/? 1 HBD:c.-80T>C - - - - HBD_01438 HbVar delta+ thal dbSNP;Papachatzopoulou A (E-6551-2010);Papadakis M, (B-1874-2010); DNA SEQ -30 (T->C); delta+ 1 D013789
+?/? 1 HBD:c.-81A>G - - - - HBD_01437 HbVar delta+ thal (OMIM 0046);dbSNP;Frischknecht H,; HbVar A-2391-2010;Frischknecht H et al.; Protein Amino -31 (A->G) delta+ 1 D013789
+?/? 1 HBD:c.-86C>A - - - - HBD_01418 HbVar delta+ thal dbSNP;Papadakis M et al.; DNA SEQ -36 (C->A); probably delta+ 1 D013789
+?/? 1 HBD:c.11T>C - p.Leu4Pro - - HBD_02011 - Hb variants Barberio G; Ivaldi G; Maffei M; Mogni M; HbVar A-2391-2010; Protein Amino Hb A2-Sile 1 -
+?/? 1 HBD:c.14C>G - p.Thr5Ser - - HBD_01449 HbVar Hb variants dbSNP;Dutly, F; Frischknecht, H; Troxler, H. ; HbVar A-2391-2010; DNA SEQ Hb A2-Acacias 1 D006455
+?/? 1 HBD:c.14C>T - p.Thr5Ile - - HBD_01419 HbVar delta+ thal dbSNP;SwissVar VAR_018740;Trifillis P et al.; DNA SEQ Codon 4 (ACT->ATT) delta+ 1 D013789
+?/? 1 HBD:c.19G>C - p.Glu7Gln - - HBD_01723 HbVar Hb variants dbSNP;Phylipsen M et al.; Protein Amino Hb A2-Ramallah 1 D006455
+?/? 1 HBD:c.23A>C - p.Glu8Ala - - HBD_01448 HbVar Hb variants dbSNP; DNA SEQ Hb A2-Udine 1 D006455
+?/? 1 HBD:c.24G>C - p.Glu8Asp - - HBD_01681 HbVar Hb variants dbSNP;Coviello D.; Geremia L.; Ivaldi G.; Leone D.; Moruzzi F.; Pascotto D.; Zanolli F.A.; HbVar A-2391-2010; DNA SEQ Hb A2-Pordenone 1 D006455
+?/? 1 HBD:c.25A>G - p.Lys9Glu - - HBD_01430 HbVar Hb variants dbSNP;Harano T; HbVar A-2391-2010; DNA SEQ Hb A2-Toranomon 1 C104220
+?/? 1 HBD:c.32C>T - p.Ala11Val - - HBD_02063 - Hb variants KARAKAYA T. (E-5674-2017) Protein Amino Hb A2-Canakkale 1 -
+?/? 1 HBD:c.35T>G - p.Val12Gly - - HBD_01384 HbVar Hb variants dbSNP;Drakoulakou O et al.; Protein Amino Hb A2-Pylos 1 C106313
+?/? 1 HBD:c.38A>C - p.Asn13Thr - - HBD_01929 HbVar Hb variants van Zwieten R et al.; Protein Amino Hb A2-Rotterdam 1 D006455
+?/? 1 HBD:c.39T>A - p.Asn13Lys - - HBD_01385 HbVar Hb variants (OMIM 0012);dbSNP;SwissVar VAR_003098;Jong WW de et al.;Ranney HM et al.;Aksoy M et al.;Vella F et al.; Protein Amino Hb A2-NYU 1 C039470
+?/? 1 HBD:c.3G>A - p.Met1Ile - - HBD_01615 HbVar delta0 thal dbSNP;Dutly F; Frischknecht H; Weibel T; HbVar A-2391-2010; Protein Amino HBD c.1 G>A 1 D013789
+?/? 1 HBD:c.41C>A - p.Ala14Asp - - HBD_01443 HbVar Hb variants dbSNP;Walker L et al.;Giambona A et al.; Protein Amino Hb A2-MUMC 1 C508162
+?/? 1 HBD:c.44T>C - p.Leu15Pro - - HBD_01770 HbVar Hb variants FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb A2-Saint-Etienne 1 D006455
+?/? 1 HBD:c.47G>T - p.Trp16Leu - - HBD_02015 - Hb variants Britta Landin; HbVar A-2391-2010; Protein Amino Hb A2-Stockholm 1 -
+?/? 1 HBD:c.49G>C - p.Gly17Arg - - HBD_01386 HbVar Hb variants (OMIM 0001);dbSNP;SwissVar VAR_003099;Codrington JF et al.;Jones RT et al.;Ball EW et al.; Protein Amino Hb A2' or Hb B2 1 C049102
+?/? 1 HBD:c.5T>C - p.Val2Ala - - HBD_01382 HbVar Hb variants (OMIM 0027);dbSNP;SwissVar VAR_003096;Harano T et al.; Protein Amino Hb A2-Niigata 1 C072970
+?/? 1 HBD:c.62T>A - p.Val21Glu - - HBD_01387 HbVar Hb variants (OMIM 0013);dbSNP;SwissVar VAR_003100;Rieder RF et al.; Protein Amino Hb A2-Roosevelt 1 D006455
+?/? 1 HBD:c.68C>A - p.Ala23Glu - - HBD_01388 HbVar Hb variants (OMIM 0007);dbSNP;SwissVar VAR_003101;Lee RC et al.;Ranney HM et al.;Jones RT et al.; Protein Amino Hb A2-Flatbush 1 D006455
+?/? 1 HBD:c.74G>A - p.Gly25Asp - - HBD_01389 HbVar Hb variants (OMIM 0015);dbSNP;SwissVar VAR_003102;Brennan SO et al.; Protein Amino Hb A2-Victoria 1 C042248
+?/? 1 HBD:c.77G>A - p.Gly26Asp - - HBD_01390 HbVar Hb variants (OMIM 0017);dbSNP;SwissVar VAR_003103;Ohba Y et al.; Protein Amino Hb A2-Yokoshima 1 C048110
+?/? 1 HBD:c.7C>A - p.His3Asn - - HBD_01682 HbVar Hb variants dbSNP;Old J (E-5816-2010); Protein Amino Hb A2 codon 2 (CAT→AAT) 1 D006455
+?/? 1 HBD:c.81G>C - p.Glu27Asp - - HBD_01391 HbVar Hb variants (OMIM 0034);dbSNP;SwissVar VAR_003104;Loudianos G et al.; Protein Amino Hb A2-Puglia 1 D006455
+?/? 1 HBD:c.82G>T - p.Ala28Ser - - HBD_01392 HbVar Thalassemia (OMIM 0028);dbSNP;SwissVar VAR_003105;Angioletti MD et al.;Oggiano L et al.;Loudianos G et al.; DNA SEQ Hb A2-Yialousa 1 D013789
+?/? 1 HBD:c.89G>A - p.Gly30Asp - - HBD_01755 HbVar Hb variants So CC et al.; Protein Amino Hb A2 Hong Kong 1 D006455
+?/? 1 HBD:c.8A>G - p.His3Arg - - HBD_01383 HbVar Hb variants (OMIM 0014);dbSNP;SwissVar VAR_003097;Fairbanks VF; HbVar A-2391-2010;Vella F et al.;Jones RT et al.; Protein Amino Hb A2-Sphakiá 1 D006455
+?/? 1 HBD:c.8A>T - p.His3Leu - - HBD_01444 HbVar Hb variants dbSNP;Giambona A et al.; Protein Amino Hb A2-Catania 1 D006455
+?/? 1 HBD:c.92+2T>C - - - - HBD_01421 HbVar delta0 thal dbSNP;Moi P et al.; DNA SEQ IVS-I-2 (T->C) delta0 1 D013789
+?/? 1 HBD:c.92G>C - p.Arg31Thr - - HBD_01420 HbVar delta0 thal (OMIM 0029);dbSNP;Pirastu M et al.; Protein Amino Codon 30 (AGG->ACG) delta0 1 D013789
+?/? 1 HBD:c.[67G>A ;68C>A] - p.Ala23Glu - - HBD_01769 HbVar Hb variants COUPRIE N.; FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb A2-Marseille 1 D006455
+?/? 1 NC_000011.9:g.5241853_5254462del - - - - HBD_01828 HbVar (delta-beta)0 thal PISSARD Serge (F-8621-2010);Ghedira ES et al.;Chalaow N et al.;Ghedira ES et al.;Trent RJ et al.; DNA SEQ Thai (deltabeta)0-Thal 1 D013789
+?/? 1-3 NC_000011.9:g.5248185_5255597dup - - - - HBD_01460 HbVar Hb variants (OMIM 0179);Roberts AV et al.;Ohta Y et al.; Protein Amino Hb Miyada 1 C040869
+?/? 1-3 NC_000011.9:g.5254403_5261609del - - - - HBD_01429 HbVar delta0 thal Ribeiro ML et al.;Galanello R et al.;Kulozik AE et al.; DNA SEQ -7.2 kb; the Corfu deletion delta0 1 D013789
+?/? 1-3 NC_000011.9:g.[5248185_5255597del(;)5247861_5255275del] - - - - HBD_01458 HbVar Hb variants (OMIM 0022);Adams JG 3d et al.; Protein Amino Hb Parchman 1 D006455
+?/? 1 NG_000007.3:g.63160_70572dup - - - - HBD_01973 - rare variant So CC et al.; Protein Amino Hb anti-Lepore Hong Kong 1 -
+?/? 1 NG_000007.3:g.[63191_70603dup;63291_70703del] - - - - HBD_02006 - Hb variants Jennifer Oliveira (F-7016-2010); DNA SEQ Hb Lepore Rochester-MN 1 -
+?/? 2 HBD:c.110C>A - p.Pro37His - - HBD_01393 HbVar Hb variants (OMIM 0039);dbSNP;Angioletti MD et al.; Protein Amino Hb A2-Metaponto 1 D006455
+?/? 2 HBD:c.110C>G - p.Pro37Arg - - HBD_02038 - Hb variants Mogni M et al; HbVar A-2391-2010; Protein Amino Hb A2-Sanremo 1 -
+?/? 2 HBD:c.113G>A - p.Trp38Stop - - HBD_01422 HbVar delta0 thal (OMIM 0035);dbSNP;Gasperini D et al.; DNA SEQ Codon 37 (TGG->TAG) delta0 1 D013789
+?/? 2 HBD:c.120G>C - p.Gln40His - - HBD_01616 HbVar Hb variants dbSNP;Francina A (E-3974-2010); DNA SEQ Hb A2-Lyon 1 D006455
+?/? 2 HBD:c.130G>A - p.Glu44Lys - - HBD_01394 HbVar Hb variants (OMIM 0011);dbSNP;SwissVar VAR_003107;Sharma RS et al.; Protein Amino Hb A2-Melbourne 1 D006455
+?/? 2 HBD:c.131A>G - p.Glu44Gly - - HBD_01395 HbVar Hb variants (OMIM 0037);dbSNP;SwissVar VAR_003106;Papadakis M et al.; Protein Amino Hb A2-Agrinio 1 C097403
+?/? 2 HBD:c.135_145delCTTTGGGGATC - - - - HBD_02092 - delta0 thal Dutly F, Saller E; HbVar A-2391-2010; Protein Amino Codon45(-CTTTGGGGATC) 1 -
+?/? 2 HBD:c.140G>A - p.Gly47Glu - - HBD_01843 HbVar Hb variants MOUMNI Imen; HbVar A-2391-2010;Moumni I et al.; Protein Amino Hb A2-Tunis 1 D006455
+?/? 2 HBD:c.142G>A - p.Asp48Asn - - HBD_01971 - Hb variants Panyasai S et al.; Protein Amino Hb A2-Lampang 1 -
+?/? 2 HBD:c.143A>T - p.Asp48Val - - HBD_01396 HbVar Hb variants (OMIM 0025);dbSNP;SwissVar VAR_003108;Leung H et al.; Protein Amino Hb A2-Parkville 1 C073728
+?/? 2 HBD:c.151T>A - p.Ser51Thr - - HBD_01829 HbVar Hb variants - Protein Amino Hb Konz 1 D006455
+?/? 2 HBD:c.155C>G - p.Pro52Arg - - HBD_01397 HbVar Hb variants (OMIM 0002);dbSNP;SwissVar VAR_003109;Alberti R et al.; Protein Amino Hb A2-Adria 1 D006455
+?/? 2 HBD:c.157G>C - p.Asp53His - - HBD_01683 HbVar Hb variants dbSNP;Old J (E-5816-2010); Protein Amino Hb A2 codon 52 (GAT>CAT) 1 D006455
+?/? 2 HBD:c.160G>C - p.Ala54Pro - - HBD_01986 - Hb variants - Protein Amino Hb A2-Edirne 1 -
+?/? 2 HBD:c.174C>A - p.Asn58Lys - - HBD_01432 HbVar Hb variants (OMIM 0040);dbSNP;Angioletti MD et al.; DNA SEQ Hb A2-Campania 1 D006455
+?/? 2 HBD:c.176_177insC - - - - HBD_01931 HbVar delta0 thal HARTEVELD C. L.; HbVar A-2391-2010; Protein Amino Codon 58 (+C) delta0 1 D013789
+?/? 2 HBD:c.179A>T - p.Lys60Met - - HBD_01450 HbVar Hb variants dbSNP;Couprie N.; Francina A (E-3974-2010);Joly P (E-4142-2010);HbVar A-2391-2010; DNA SEQ Hb A2-North Africa 1 D006455
+?/? 2 HBD:c.179delA - - - - HBD_01423 HbVar delta0 thal (OMIM 0023);dbSNP;Olds RJ et al.; Protein Amino Codon 59 (-A); AAG(Lys)->-AG delta0 1 D013789
+?/? 2 HBD:c.180G>C - p.Lys60Asn - - HBD_01442 HbVar Hb variants dbSNP;Moumni I et al.; DNA SEQ Hb A2-Pasteur-Tunis 1 D006455
+?/? 2 HBD:c.193G>A - p.Gly65Ser - - HBD_01930 HbVar Hb variants van Zwieten R et al.; Protein Amino Hb A2-Venlo 1 D006455
+?/? 2 HBD:c.198G>T - p.Lys66Asn - - HBD_02062 - Hb variants Zhang J et al.; Protein Amino Hb A2-Yunnan 1 -
+?/? 2 HBD:c.208G>C - p.Gly70Arg - - HBD_01398 HbVar Hb variants (OMIM 0009);dbSNP;SwissVar VAR_003110;Ganesan J et al.;Eng LI et al.;Lie-Injo LE et al.; Protein Amino Hb A2-Indonesia 1 D006455
+?/? 2 HBD:c.209G>A - p.Gly70Asp - - HBD_02048 - Hb variants Dutly F; Saller E; HbVar A-2391-2010; Protein Amino Hb A2-Gebenstorf 1 -
+?/? 2 HBD:c.212C>G - p.Ala71Gly - - HBD_01445 HbVar Hb variants dbSNP;Giambona A et al.; Protein Amino Hb A2-Ventimiglia 1 D006455
+?/? 2 HBD:c.224G>A - p.Gly75Asp - - HBD_01680 HbVar Hb variants dbSNP;Coviello D.; Ivaldi G. ; Leone D; Moruzzi F.; Pascotto D.; Paventa R.; HbVar A-2391-2010; Protein Amino Hb A2-Asti 1 D006455
+?/? 2 HBD:c.226C>G - p.Leu76Val - - HBD_01399 HbVar Hb variants (OMIM 0033);dbSNP;SwissVar VAR_003111;Molchanova TP et al.; Protein Amino Hb A2-Grovetown 1 C082239
+?/? 2 HBD:c.233A>G - p.His78Arg - - HBD_01972 - Hb variants Nuinoon M et al.; Protein Amino Hb A2-Kiriwong 1 -
+?/? 2 HBD:c.239A>G - p.Asp80Gly - - HBD_01837 HbVar Hb variants COUPRIE, N.; JOLY, P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb A2-Turkish 1 D006455
+?/? 2 HBD:c.244C>T - p.Leu82Phe - - HBD_01684 HbVar Hb variants dbSNP;JOLY Philippe (E-4142-2010);Old J (E-5816-2010); Protein Amino Hb A2 Saint-Denis 1 D006455
+?/? 2 HBD:c.247A>T - p.Lys83Stop - - HBD_01722 HbVar delta (0 or + unclear) thal dbSNP;Gallivan (A-9986-2010); Protein Amino Codon 82 (AAG->TAG) delta0 1 D013789
+?/? 2 HBD:c.251G>A - p.Gly84Asp - - HBD_01400 HbVar Hb variants dbSNP;Harano T; HbVar A-2391-2010; Protein Amino Hb A2-Nishishinbashi 1 D006455
+?/? 2 HBD:c.257T>C - p.Phe86Ser - - HBD_01401 HbVar Hb variants dbSNP;Drakoulakou O et al.; Protein Amino Hb A2-Etolia 1 C106312
+?/? 2 HBD:c.262C>A - p.Gln88Lys - - HBD_01446 HbVar Hb variants dbSNP;Giambona A et al.; Protein Amino Hb A2-Montechiaro 1 D006455
+?/? 2 HBD:c.265C>G - p.Leu89Val - - HBD_01433 HbVar Hb variants (OMIM 0041);dbSNP;Angioletti MD et al.; DNA SEQ Hb A2-Lucania 1 D006455
+?/? 2 HBD:c.269G>A - p.Ser90Asn - - HBD_02065 - Hb variants COVIELLO Domenico; MAFFEI Massimo; IVALDI Giovanni; SANTONI Fabiano; RIZZI Leonardo; GUASTINI Adriana; MOGNI Massimo; HbVar A-2391-2010; Protein Amino Hb A2 Pistoia 1 -
+?/? 2 HBD:c.270_271insT - - - - HBD_01424 HbVar delta0 thal dbSNP;Losekoot M et al.; DNA SEQ Codon 91 (+T) delta0 1 D013789
+?/? 2 HBD:c.271G>A - p.Glu91Lys - - HBD_01836 HbVar Hb variants COUPRIE, N.; JOLY, P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb A2-Canebière 1 D006455
+?/? 2 HBD:c.272A>G - p.Glu91Gly - - HBD_01686 HbVar Hb variants dbSNP;Gallivan M (A-9986-2010); Protein Amino Hb A2-India 1 D006455
+?/? 2 HBD:c.272A>T - p.Glu91Val - - HBD_01402 HbVar Hb variants (OMIM 0008);dbSNP;SwissVar VAR_003112;Fujita S et al.; Protein Amino Hb A2-Honai 1 C048109
+?/? 2 HBD:c.275T>C - p.Leu92Pro - - HBD_02029 - Hb variants JOLY Philippe; HbVar A-2391-2010; Protein Amino Hb A2-Courbevoie 1 -
+?/? 2 HBD:c.280T>G - p.Cys94Gly - - HBD_01403 HbVar Hb variants (OMIM 0036);dbSNP;SwissVar VAR_014277;Galanello R et al.; Protein Amino Hb A2-Sant' Antioco 1 C093040
+?/? 2 HBD:c.282_283delTG - - - - HBD_02069 - delta0 thal SALLER E.; HbVar A-2391-2010; Protein Amino delta(0) Cys94* 1 -
+?/? 2 HBD:c.295G>A - p.Val99Met - - HBD_01404 HbVar delta+ thal (OMIM 0016);dbSNP;SwissVar VAR_003113;Codrington JF et al.; DNA SEQ Hb A2-Wrens 1 C061223
+?/? 2 HBD:c.298G>A - p.Asp100Asn - - HBD_01405 HbVar Hb variants (OMIM 0004);dbSNP;SwissVar VAR_003114;Salkie ML et al.; Protein Amino Hb A2-Canada 1 D006455
+?/? 2 HBD:c.301C>T - p.Pro101Ser - - HBD_01953 HbVar Hb variants Colaco S et al.; Protein Amino Hb A2-Saurashtra 1 D006455
+?/? 2 HBD:c.314G>A - p.Arg105Lys - - HBD_01952 HbVar Hb variants - Protein Amino Hb Chori-Burnaby 1 D006455
+?/? 2 HBD:c.315+1G>A - - - - HBD_01614 HbVar delta0 thal dbSNP;Frischknecht H; HbVar A-2391-2010; Protein Amino IVS-II-1(G>A)delta0 1 D013789
+?/? 2 HBD:c.315+6T>A - - - - HBD_01436 HbVar delta+ thal (OMIM 0043);dbSNP;Angioletti MD et al.; DNA SEQ delta IVSII-6 T->A 1 D013789
+?/? 2 HBD:c.315G>T - p.Arg105Ser - - HBD_01434 HbVar Hb variants (OMIM 0042);dbSNP;Angioletti MD et al.; DNA SEQ Hb A2-Capri 1 D006455
+?/? 2 HBD:c.93-1G>C - - - - HBD_01440 HbVar delta0 thal dbSNP;Papachatzopoulou A (E-6551-2010);Papadakis M, (B-1874-2010); DNA SEQ IVS-I 3' AG->AC; delta0 1 D013789
+?/? 3 HBD:c.*199G>A - - - - HBD_01428 HbVar delta (0 or + unclear) thal (OMIM 0026);dbSNP;Moi P et al.; DNA SEQ Poly A +69 (G->A) delta 1 D013789
+?/? 3 HBD:c.316-2A>C - - - - HBD_01425 HbVar delta0 thal dbSNP;Trifillis P et al.; DNA SEQ IVS-II-897, A->C; AG^CT->CGCT delta0 1 D013789
+?/? 3 HBD:c.316-2A>G - - - - HBD_01834 HbVar delta0 thal Dr. Nicole COUPRIE; Dr. Philippe JOLY (E-4142-2010);HbVar A-2391-2010; Protein Amino IVS-II-897 A>G ; delta0 1 D013789
+?/? 3 HBD:c.316-5C>T - - - - HBD_01439 HbVar delta+ thal dbSNP;Papachatzopoulou A (E-6551-2010);Papadakis M, (B-1874-2010); DNA SEQ IVS II-894 (C->T); delta+ 1 D013789
+?/? 3 HBD:c.349C>T - p.Arg117Cys - - HBD_01407 HbVar Hb variants (OMIM 0024);dbSNP;SwissVar VAR_003115;Trifillis P et al.; Protein Amino Hb A2-Troodos 1 C508163
+?/? 3 HBD:c.349C>T - p.Arg117Cys - - HBD_01426 HbVar delta+ thal Trifillis P et al.; DNA SEQ Codon 116 (CGC->TGC) delta+ 1 D013789
+?/? 3 HBD:c.350G>A - p.Arg117His - - HBD_01406 HbVar Hb variants (OMIM 0005);dbSNP;SwissVar VAR_003116;Sharma RS et al.; Protein Amino Hb A2-Coburg 1 D006455
1 - 100
[<-] 1 2 [->]


Save Click here to save this list in a tab-delimited text file.

Legend: [ HBD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. HBD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Disease Mesh ID: Mesh ID