LOVD - Variant listings for HBD

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122 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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HbVar link Hide HbVar link column Descending
Ascending
1 HBD:c.-105T>C - - - - HBD_01417 HbVar
1 HBD:c.-115A>G - - - - HBD_01416 HbVar
1 HBD:c.-126A>T - - - - HBD_01435 HbVar
1 HBD:c.-127T>C - - - - HBD_01415 HbVar
1 HBD:c.-80T>C - - - - HBD_01438 HbVar
1 HBD:c.-81A>G - - - - HBD_01437 HbVar
1 HBD:c.-86C>A - - - - HBD_01418 HbVar
1 HBD:c.11T>C - p.Leu4Pro - - HBD_02011 -
1 HBD:c.14C>G - p.Thr5Ser - - HBD_01449 HbVar
1 HBD:c.14C>T - p.Thr5Ile - - HBD_01419 HbVar
1 HBD:c.19G>C - p.Glu7Gln - - HBD_01723 HbVar
1 HBD:c.23A>C - p.Glu8Ala - - HBD_01448 HbVar
1 HBD:c.24G>C - p.Glu8Asp - - HBD_01681 HbVar
1 HBD:c.25A>G - p.Lys9Glu - - HBD_01430 HbVar
1 HBD:c.32C>T - p.Ala11Val - - HBD_02063 -
1 HBD:c.35T>G - p.Val12Gly - - HBD_01384 HbVar
1 HBD:c.38A>C - p.Asn13Thr - - HBD_01929 HbVar
1 HBD:c.39T>A - p.Asn13Lys - - HBD_01385 HbVar
1 HBD:c.3G>A - p.Met1Ile - - HBD_01615 HbVar
1 HBD:c.41C>A - p.Ala14Asp - - HBD_01443 HbVar
1 HBD:c.44T>C - p.Leu15Pro - - HBD_01770 HbVar
1 HBD:c.47G>T - p.Trp16Leu - - HBD_02015 -
1 HBD:c.49G>C - p.Gly17Arg - - HBD_01386 HbVar
1 HBD:c.5T>C - p.Val2Ala - - HBD_01382 HbVar
1 HBD:c.62T>A - p.Val21Glu - - HBD_01387 HbVar
1 HBD:c.68C>A - p.Ala23Glu - - HBD_01388 HbVar
1 HBD:c.74G>A - p.Gly25Asp - - HBD_01389 HbVar
1 HBD:c.77G>A - p.Gly26Asp - - HBD_01390 HbVar
1 HBD:c.7C>A - p.His3Asn - - HBD_01682 HbVar
1 HBD:c.81G>C - p.Glu27Asp - - HBD_01391 HbVar
1 HBD:c.82G>T - p.Ala28Ser - - HBD_01392 HbVar
1 HBD:c.89G>A - p.Gly30Asp - - HBD_01755 HbVar
1 HBD:c.8A>G - p.His3Arg - - HBD_01383 HbVar
1 HBD:c.8A>T - p.His3Leu - - HBD_01444 HbVar
1 HBD:c.92+2T>C - - - - HBD_01421 HbVar
1 HBD:c.92G>C - p.Arg31Thr - - HBD_01420 HbVar
1 HBD:c.[67G>A ;68C>A] - p.Ala23Glu - - HBD_01769 HbVar
1 NC_000011.9:g.5241853_5254462del - - - - HBD_01828 HbVar
1-3 NC_000011.9:g.5248185_5255597dup - - - - HBD_01460 HbVar
1-3 NC_000011.9:g.5254403_5261609del - - - - HBD_01429 HbVar
1-3 NC_000011.9:g.[5248185_5255597del(;)5247861_5255275del] - - - - HBD_01458 HbVar
1 NG_000007.3:g.63160_70572dup - - - - HBD_01973 -
1 NG_000007.3:g.[63191_70603dup;63291_70703del] - - - - HBD_02006 -
2 HBD:c.110C>A - p.Pro37His - - HBD_01393 HbVar
2 HBD:c.110C>G - p.Pro37Arg - - HBD_02038 -
2 HBD:c.113G>A - p.Trp38Stop - - HBD_01422 HbVar
2 HBD:c.120G>C - p.Gln40His - - HBD_01616 HbVar
2 HBD:c.130G>A - p.Glu44Lys - - HBD_01394 HbVar
2 HBD:c.131A>G - p.Glu44Gly - - HBD_01395 HbVar
2 HBD:c.135_145delCTTTGGGGATC - - - - HBD_02092 -
2 HBD:c.140G>A - p.Gly47Glu - - HBD_01843 HbVar
2 HBD:c.142G>A - p.Asp48Asn - - HBD_01971 -
2 HBD:c.143A>T - p.Asp48Val - - HBD_01396 HbVar
2 HBD:c.151T>A - p.Ser51Thr - - HBD_01829 HbVar
2 HBD:c.155C>G - p.Pro52Arg - - HBD_01397 HbVar
2 HBD:c.157G>C - p.Asp53His - - HBD_01683 HbVar
2 HBD:c.160G>C - p.Ala54Pro - - HBD_01986 -
2 HBD:c.174C>A - p.Asn58Lys - - HBD_01432 HbVar
2 HBD:c.176_177insC - - - - HBD_01931 HbVar
2 HBD:c.179A>T - p.Lys60Met - - HBD_01450 HbVar
2 HBD:c.179delA - - - - HBD_01423 HbVar
2 HBD:c.180G>C - p.Lys60Asn - - HBD_01442 HbVar
2 HBD:c.193G>A - p.Gly65Ser - - HBD_01930 HbVar
2 HBD:c.198G>T - p.Lys66Asn - - HBD_02062 -
2 HBD:c.208G>C - p.Gly70Arg - - HBD_01398 HbVar
2 HBD:c.209G>A - p.Gly70Asp - - HBD_02048 -
2 HBD:c.212C>G - p.Ala71Gly - - HBD_01445 HbVar
2 HBD:c.224G>A - p.Gly75Asp - - HBD_01680 HbVar
2 HBD:c.226C>G - p.Leu76Val - - HBD_01399 HbVar
2 HBD:c.233A>G - p.His78Arg - - HBD_01972 -
2 HBD:c.239A>G - p.Asp80Gly - - HBD_01837 HbVar
2 HBD:c.244C>T - p.Leu82Phe - - HBD_01684 HbVar
2 HBD:c.247A>T - p.Lys83Stop - - HBD_01722 HbVar
2 HBD:c.251G>A - p.Gly84Asp - - HBD_01400 HbVar
2 HBD:c.257T>C - p.Phe86Ser - - HBD_01401 HbVar
2 HBD:c.262C>A - p.Gln88Lys - - HBD_01446 HbVar
2 HBD:c.265C>G - p.Leu89Val - - HBD_01433 HbVar
2 HBD:c.269G>A - p.Ser90Asn - - HBD_02065 -
2 HBD:c.270_271insT - - - - HBD_01424 HbVar
2 HBD:c.271G>A - p.Glu91Lys - - HBD_01836 HbVar
2 HBD:c.272A>G - p.Glu91Gly - - HBD_01686 HbVar
2 HBD:c.272A>T - p.Glu91Val - - HBD_01402 HbVar
2 HBD:c.275T>C - p.Leu92Pro - - HBD_02029 -
2 HBD:c.280T>G - p.Cys94Gly - - HBD_01403 HbVar
2 HBD:c.282_283delTG - - - - HBD_02069 -
2 HBD:c.295G>A - p.Val99Met - - HBD_01404 HbVar
2 HBD:c.298G>A - p.Asp100Asn - - HBD_01405 HbVar
2 HBD:c.301C>T - p.Pro101Ser - - HBD_01953 HbVar
2 HBD:c.314G>A - p.Arg105Lys - - HBD_01952 HbVar
2 HBD:c.315+1G>A - - - - HBD_01614 HbVar
2 HBD:c.315+6T>A - - - - HBD_01436 HbVar
2 HBD:c.315G>T - p.Arg105Ser - - HBD_01434 HbVar
2 HBD:c.93-1G>C - - - - HBD_01440 HbVar
3 HBD:c.*199G>A - - - - HBD_01428 HbVar
3 HBD:c.316-2A>C - - - - HBD_01425 HbVar
3 HBD:c.316-2A>G - - - - HBD_01834 HbVar
3 HBD:c.316-5C>T - - - - HBD_01439 HbVar
3 HBD:c.349C>T
  (Reported 2 times)
- p.Arg117Cys - - HBD_01407 HbVar
3 HBD:c.350G>A - p.Arg117His - - HBD_01406 HbVar
3 HBD:c.350G>C - p.Arg117Pro - - HBD_01964 -
1 - 100
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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.
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