LOVD - Variant listings for HBG2

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+?/? 1 HBG2:c.-163A>C - - - - HBG2_00617 HbVar HPFH dbSNP;Indrak K et al.; DNA SEQ -110 (A->C) Ggamma; the Czech nd-HPFH 1 D013789
+?/? 1 HBG2:c.-167C>A - - - - HBG2_00620 HbVar HPFH (OMIM 0046);dbSNP;Zertal-Zidani S et al.; DNA SEQ -114(C->A)Ggamma; the Algerian nd-HPFH 1 D013789
+?/? 1 HBG2:c.-167C>G - - - - HBG2_00615 HbVar HPFH dbSNP;Motum PI et al.; DNA SEQ -114 (C->G) Ggamma; the Australian nd-HPFH 1 D013789
+?/? 1 HBG2:c.-167C>T - - - - HBG2_00616 HbVar HPFH (OMIM 0035);dbSNP;Fucharoen S et al.; DNA SEQ -114 (C->T) Ggamma; the Japanese nd-HPFH 1 D013789
+?/? 1 HBG2:c.-228T>C - - - - HBG2_00614 HbVar HPFH (OMIM 0027);dbSNP;Friedman S et al.; DNA SEQ -175 (T->C) Ggamma; nd-HPFH 1 D013789
+?/? 1 HBG2:c.-250C>T - - - - HBG2_01650 HbVar HPFH dbSNP;Barnaby C (E-6612-2010); Protein Amino G Gamma -197 C>T 1 D013789
+?/? 1 HBG2:c.-255C>G - - - - HBG2_00613 HbVar HPFH (OMIM 0026);dbSNP;Huisman TH et al.;Collins FS et al.; DNA SEQ -202 (C->G) Ggamma; nd-HPFH 1 D013789
+?/? 1 HBG2:c.17A>G - p.Glu6Gly - - HBG2_00569 HbVar Hb variants (OMIM 0016);dbSNP;SwissVar VAR_003126;Ohta Y et al.; Protein Amino Hb F-Meinohama 1 C033429
+?/? 1 HBG2:c.19G>A - p.Glu7Lys - - HBG2_00607 HbVar Hb variants dbSNP;dbSNP;Larkin IL et al.; Protein Amino Hb F-Texas-II 1 C055794
+?/? 1 HBG2:c.22G>A - p.Asp8Asn - - HBG2_00570 HbVar Hb variants (OMIM 0002);dbSNP;SwissVar VAR_003129;Chen SS et al.;Carrell RW et al.; Protein Amino Hb F-Auckland 1 C047885
+?/? 1 HBG2:c.38C>A - p.Thr13Lys - - HBG2_00608 HbVar Hb variants dbSNP;dbSNP;Loukopoulos D et al.;Vella F et al.; Protein Amino Hb F-Alexandra 1 D006455
+?/? 1 HBG2:c.38C>G - p.Thr13Arg - - HBG2_00572 HbVar Hb variants (OMIM 0008);dbSNP;SwissVar VAR_020645;Bradley TB; HbVar A-2391-2010; Protein Amino Hb F-Heather 1 D006455
+?/? 1 HBG2:c.42C>A - p.Ser14Arg - - HBG2_02082 - Hb variants James D. Hoyer (F-7016-2010) DNA SEQ Hb F-Millennium Park 1 -
+?/? 1 HBG2:c.46T>C - p.Trp16Arg - - HBG2_00573 HbVar Hb variants (OMIM 0036);dbSNP;SwissVar VAR_003131;Plaseska D et al.; Protein Amino Hb F-Catalonia 1 C067965
+?/? 1 HBG2:c.49G>C - p.Gly17Arg - - HBG2_00574 HbVar Hb variants (OMIM 0017);dbSNP;SwissVar VAR_003132;Brennan SO et al.; Protein Amino Hb F-Melbourne 1 D006455
+?/? 1 HBG2:c.4G>A - p.Gly2Ser - - HBG2_01771 HbVar Hb variants FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb F-Montchat 1 D006455
+?/? 1 HBG2:c.4G>T - p.Gly2Cys - - HBG2_00568 HbVar Hb variants (OMIM 0013);dbSNP;SwissVar VAR_003123;Eng LI et al.; Protein Amino Hb F-Malaysia 1 D006455
+?/? 1 HBG2:c.5G>A - p.Gly2Asp - - HBG2_01988 - Hb variants Cui J et al.; Protein Amino Hb F-Hayward 1 -
+?/? 1 HBG2:c.62T>C - p.Val21Ala - - HBG2_00621 HbVar Hb variants dbSNP;Lacan P et al.; Protein Amino Hb F-Bron 1 C508164
+?/? 1 HBG2:c.64G>A - p.Glu22Lys - - HBG2_00576 HbVar Hb variants dbSNP;SwissVar VAR_003133;Pobedimskaya DD et al.; Protein Amino Hb F-Saskatoon 1 C086554
+?/? 1 HBG2:c.64G>C - p.Glu22Gln - - HBG2_00575 HbVar Hb variants (OMIM 0007);dbSNP;SwissVar VAR_003134;Wada Y et al.; Protein Amino Hb F-Fuchu 1 D006455
+?/? 1 HBG2:c.68A>G - p.Asp23Gly - - HBG2_00577 HbVar Hb variants (OMIM 0024);dbSNP;SwissVar VAR_020648;Hu HY et al.; Protein Amino Hb F-Urumqi 1 C048605
+?/? 1 HBG2:c.68A>T - p.Asp23Val - - HBG2_00578 HbVar Hb variants (OMIM 0029);dbSNP;SwissVar VAR_003136;de Pablos JM et al.; Protein Amino Hb F-Granada 1 C055565
+?/? 1 HBG2:c.74G>A - p.Gly25Glu - - HBG2_02089 - Hb variants James D. Hoyer (F-7016-2010)Semkiu KM et al.; Protein Amino Hb F-Wentzville 1 -
+?/? 1 HBG2:c.77G>A - p.Gly26Glu - - HBG2_00579 HbVar Hb variants (OMIM 0037);dbSNP;SwissVar VAR_003137;Qualtieri A et al.; Protein Amino Hb F-Cosenza 1 C074594
+?/? 1 HBG2:c.79G>A - p.Glu27Lys - - HBG2_00580 HbVar Hb variants (OMIM 0019);dbSNP;SwissVar VAR_003139;Kleman K et al.; Protein Amino Hb F-Oakland 1 C053465
+?/? 1 HBG2:c.85C>A - p.Leu29Met - - HBG2_02000 - Hb variants Bento C et al.; Protein Amino Hb F-Viseu 1 -
+?/? 1 HBG2:c.[25A>C or 25A>G] - p.Lys9Glu - - HBG2_00571 HbVar Hb variants (OMIM 0001);dbSNP;dbSNP;SwissVar VAR_020643;SwissVar VAR_020644;de Pablos JM et al.; Protein Amino Hb F-Albaicin 1 C052164
+?/? 1 HBG2:c.[54G>C or 54G>T] - p.Lys18Asn - - HBG2_00611 HbVar Hb variants (OMIM 0048);dbSNP;dbSNP;SwissVar VAR_020646;Wajcman H et al.; Protein Amino Hb F-Clamart 1 C406706
+?/? 1 HBG2:c.[60T>A or 60T>G] - p.Asn20Lys - - HBG2_00610 HbVar Hb variants (OMIM 0049);dbSNP;dbSNP;SwissVar VAR_020647;Wajcman H et al.; Protein Amino Hb F-Ouled Rabah 1 C406705
+?/? 2 HBG2:c.103G>A - p.Val35Ile - - HBG2_00581 HbVar Hb variants (OMIM 0023);dbSNP;SwissVar VAR_003140;Chen S et al.; Protein Amino Hb F-Tokyo 1 C045641
+?/? 2 HBG2:c.112T>G - p.Trp38Gly - - HBG2_01833 HbVar Hb variants Dr. Philippe JOLY (E-4142-2010); Protein Amino Hb F-Cobb II 1 D006455
+?/? 2 HBG2:c.115A>C - p.Thr39Pro - - HBG2_00619 HbVar Hb variants dbSNP;Van den Driessche M et al.; DNA SEQ Hb F-Bonheiden 1 D006455
+?/? 2 HBG2:c.121A>G - p.Arg41Gly - - HBG2_00583 HbVar Hb variants (OMIM 0044);dbSNP;SwissVar VAR_003144;de Pablos Gallego JM et al.; Protein Amino Hb F-Veleta 1 C098896
+?/? 2 HBG2:c.122G>A - p.Arg41Lys - - HBG2_00582 HbVar Hb variants (OMIM 0030);dbSNP;SwissVar VAR_020649;Kutlar A et al.; Protein Amino Hb F-Austell 1 C057247
+?/? 2 HBG2:c.124T>C - p.Phe42Leu - - HBG2_01832 HbVar Hb variants B. MASALA (A-2272-2011); Protein Amino Hb F-Avellino 1 D006455
+?/? 2 HBG2:c.125T>C - p.Phe42Ser - - HBG2_00584 HbVar Hb variants (OMIM 0041);dbSNP;SwissVar VAR_003146;Kohli-Kumar M et al.; Protein Amino Hb F-Cincinnati 1 C093359
+?/? 2 HBG2:c.133A>C - p.Ser45Arg - - HBG2_00585 HbVar Hb variants (OMIM 0012);dbSNP;SwissVar VAR_003148;Cepreganova B et al.;Honig GR et al.; Protein Amino Hb F-Lodz 1 C036348
+?/? 2 HBG2:c.167T>G - p.Met56Arg - - HBG2_00586 HbVar Hb variants (OMIM 0010);dbSNP;SwissVar VAR_003150;de Pablos JM et al.;Serjeant GR et al.; Protein Amino Hb F-Kingston 1 C037090
+?/? 2 HBG2:c.178A>C - p.Lys60Gln - - HBG2_00587 HbVar Hb variants (OMIM 0038);dbSNP;SwissVar VAR_003152;Abbes S et al.;Pobedimskaya DD et al.; Protein Amino Hb F-Sacromonte 1 C082238
+?/? 2 HBG2:c.178A>G - p.Lys60Glu - - HBG2_00588 HbVar Hb variants (OMIM 0042);dbSNP;SwissVar VAR_003151;Abbes S et al.; Protein Amino Hb F-Emirates 1 C095958
+?/? 2 HBG2:c.179A>G - p.Lys60Arg - - HBG2_01989 - Hb variants Kutlar F et al.; Protein Amino Hb F-Augusta GA 1 -
+?/? 2 HBG2:c.190C>T - p.His64Tyr - - HBG2_00589 HbVar Hb variants (OMIM 0025);dbSNP;SwissVar VAR_003154;Prehu C et al.;Urabe D et al.;Glader BE et al.; Protein Amino Hb F-M-Osaka 1 C063958
+?/? 2 HBG2:c.191A>T - p.His64Leu - - HBG2_02012 - Hb variants Dainer E et al.; Protein Amino Hb F-Circleville 1 -
+?/? 2 HBG2:c.194G>A - p.Gly65Asp - - HBG2_01824 HbVar Hb variants Pirastru; HbVar A-2391-2010; DNA SEQ Hb F-Turritana 1 D006455
+?/? 2 HBG2:c.199A>C - p.Lys67Gln - - HBG2_00592 HbVar Hb variants (OMIM 0031);dbSNP;SwissVar VAR_003157;Plaseska D et al.; Protein Amino Hb F-Brooklyn 1 C066870
+?/? 2 HBG2:c.200A>G - p.Lys67Arg - - HBG2_00591 HbVar Hb variants (OMIM 0022);dbSNP;SwissVar VAR_003156;Zeng YT et al.; Protein Amino Hb F-Shanghai 1 C044375
+?/? 2 HBG2:c.202G>A - p.Val68Met - - HBG2_01845 HbVar Hb variants Saller, E.; Speer, O.; Zurbriggen, K.; HbVar A-2391-2010;Crowley MA et al.; Protein Amino Hb F-Heuried 1 D006455
+?/? 2 HBG2:c.217G>C - p.Gly73Arg - - HBG2_00593 HbVar Hb variants (OMIM 0018);dbSNP;SwissVar VAR_020650;Wada Y et al.; Protein Amino Hb F-Minoo 1 D006455
+?/? 2 HBG2:c.226A>G - p.Ile76Val - - HBG2_00618 HbVar Hb variants dbSNP;Wajcman H (D-2111-2010);Wajcman H et al.; Protein Amino Hb F-Coigneres 1 C473012
+?/? 2 HBG2:c.227T>C - p.Ile76Thr - - HBG2_00594 HbVar Hb variants (OMIM 0039);dbSNP;SwissVar VAR_020651;Ferranti P et al.;Papadakis MN et al.; Protein Amino Hb F-Lesvos 1 C097990
+?/? 2 HBG2:c.233A>G - p.His78Arg - - HBG2_00595 HbVar Hb variants (OMIM 0009);dbSNP;SwissVar VAR_003162;Nakatsuji T et al.; Protein Amino Hb F-Kennestone 1 C038624
+?/? 2 HBG2:c.238G>C - p.Asp80His - - HBG2_00623 HbVar Hb variants dbSNP;Francina A (E-3974-2010); DNA SEQ Hb F-Saint-Etienne 1 D006455
+?/? 2 HBG2:c.239A>G - p.Asp80Gly - - HBG2_02090 - Hb variants James D. Hoyer (F-7016-2010) DNA SEQ Hb F-Northerly Island 1 -
+?/? 2 HBG2:c.241G>A - p.Asp81Asn - - HBG2_00596 HbVar Hb variants (OMIM 0015);dbSNP;SwissVar VAR_020652;Nakatsuji T et al.; Protein Amino Hb F-Marietta 1 C029517
+?/? 2 HBG2:c.241G>T - p.Asp81Tyr - - HBG2_01713 HbVar Hb variants dbSNP;Mereu P et al.; Protein Amino Hb F-Paulinia 1 D006455
+?/? 2 HBG2:c.269G>A - p.Ser90Asn - - HBG2_02036 - Hb variants Maffei et al; HbVar A-2391-2010; DNA SEQ Hb F-Careggi 1 -
+?/? 2 HBG2:c.277C>T - p.His93Tyr - - HBG2_00597 HbVar Hb variants (OMIM 0034);dbSNP;SwissVar VAR_003166;Molchanova TP et al.;Glader BE et al.;Priest JR et al.; Protein Amino Hb F-M-Fort Ripley 1 C059479
+?/? 2 HBG2:c.280T>C - p.Cys94Arg - - HBG2_01726 HbVar Hb variants dbSNP;Masala B (A-2272-2011);Pellegrini M et al.; Protein Amino Hb F-Monserrato-Sassari 1 D006455
+?/? 2 HBG2:c.283G>A - p.Asp95Asn - - HBG2_00598 HbVar Hb variants (OMIM 0006);dbSNP;SwissVar VAR_003167;Nakatsuji T et al.; Protein Amino Hb F-Columbus-GA 1 C036999
+?/? 2 HBG2:c.293A>G - p.His98Arg - - HBG2_00622 HbVar Hb variants dbSNP;Francina A (E-3974-2010); DNA SEQ Hb F-Lyon 1 D006455
+?/? 2 HBG2:c.304G>A - p.Glu102Lys - - HBG2_00599 HbVar Hb variants (OMIM 0011);dbSNP;SwissVar VAR_003169;Nakatsuji T et al.; Protein Amino Hb F-La Grange 1 C042751
+?/? 2 HBG2:c.304G>C - p.Glu102Gln - - HBG2_01588 HbVar Hb variants dbSNP; Protein Amino Hb F-Zheijang 1 D006455
+?/? 2 HBG2:c.308A>C - p.Asn103Thr - - HBG2_00624 HbVar Hb variants dbSNP;Capalo R; Dutly F; Frischknecht H; Ruhs K; Saller E; Zimmermann U; HbVar A-2391-2010; DNA SEQ Hb F-Sarajevo 1 D006455
+?/? 2 HBG2:c.315G>C - p.Lys105Asn - - HBG2_00600 HbVar Hb variants (OMIM 0040);dbSNP;SwissVar VAR_003170;Plaseska D et al.; Protein Amino Hb F-Macedonia-II 1 C093037
+?/? 2 HBG2:c.[198G>T or 198G>C] - p.Lys66Asn - - HBG2_00590 HbVar Hb variants (OMIM 0005);dbSNP;dbSNP;SwissVar VAR_003155;Kutlar A et al.; Protein Amino Hb F-Clarke 1 C053466
+?/? 3 HBG2:c.317T>A - p.Leu106His - - HBG2_01785 HbVar Hb variants Dr. U. Zimmermann ; Dr. H. Frischknecht ; Dr. R. Capalo; Dr. Elisabeth Saller; Dr. F. Dutly; Dr. G. Reinholz ; Dr. Joaquin Bintrup (G-1990-2010);Dr. Elisabeth Kohne; HbVar A-2391-2010; Protein Amino Hb F-Feldkirch 1 D006455
+?/? 3 HBG2:c.327T>A - p.Asn109Lys - - HBG2_00609 HbVar Hb variants dbSNP;dbSNP; Protein Amino Hb F-Ube 1 D006455
+?/? 3 HBG2:c.353A>G - p.His118Arg - - HBG2_00601 HbVar Hb variants (OMIM 0014);dbSNP;SwissVar VAR_003171;Altay G et al.;Cauchi MN et al.;Kutlar F et al.; Protein Amino Hb F-Malta-I 1 C068751
+?/? 3 HBG2:c.355T>C - p.Phe119Leu - - HBG2_00612 HbVar Hb variants (OMIM 0047);dbSNP;SwissVar VAR_015740;Manca L et al.; DNA SEQ Hb F-Calabria 1 C406704
+?/? 3 HBG2:c.361A>C - p.Lys121Gln - - HBG2_00602 HbVar Hb variants (OMIM 0003);dbSNP;SwissVar VAR_003172;Shelton JB et al.; Protein Amino Hb F-Caltech 1 C036997
+?/? 3 HBG2:c.364G>A - p.Glu122Lys - - HBG2_00603 HbVar Hb variants (OMIM 0004);dbSNP;SwissVar VAR_020653;Brennan SO et al.; Protein Amino Hb F-Carlton 1 D006455
+?/? 3 HBG2:c.377A>C - p.Glu126Ala - - HBG2_00604 HbVar Hb variants (OMIM 0021);dbSNP;SwissVar VAR_003174;Huisman THJ; HbVar A-2391-2010;Brimhall B et al.; Protein Amino Hb F-Port Royal 1 D006455
+?/? 3 HBG2:c.391T>G - p.Trp131Gly - - HBG2_00605 HbVar Hb variants (OMIM 0020);dbSNP;SwissVar VAR_003176;Lee-Potter JP et al.; Protein Amino Hb F-Poole 1 D006455
+?/? 3 HBG2:c.410G>A - p.Gly137Glu - - HBG2_01772 HbVar Hb variants FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010; Protein Amino Hb F-Privas 1 D006455
+?/? 3 HBG2:c.439C>T - p.His147Tyr - - HBG2_00606 HbVar Hb variants (OMIM 0032);dbSNP;SwissVar VAR_003179;Harano T et al.; Protein Amino Hb F-Onoda 1 C066871
+?/? 3 HBG2:c.440A>G - p.His147Arg - - HBG2_01725 HbVar Hb variants dbSNP;Brintrup J (G-1990-2010);Joly P; HbVar A-2391-2010; Protein Amino Hb F-Istambul 1 D006455
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Legend: [ HBG2 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. HBG2 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