LOVD - Variant listings for HBB

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+?/? 1 HBB:c.-100G>A - - HBB_01666 HbVar beta+ thal dbSNP;Li DZ et al.; Protein Amino -50 G>A 1 D013789
+?/? 1 HBB:c.-106G>C - - HBB_01373 HbVar rare variant dbSNP;Giordano P (A-9724-2010); DNA SEQ -56 (G>C) 1 -
+?/? 1 HBB:c.-11_-8delAAAC - - HBB_01096 HbVar beta+ thal dbSNP;Huang SZ et al.;Frances V et al.; DNA SEQ 5'UTR; +43 to +40 (-AAAC) beta+ 1 D013789
+?/? 1 HBB:c.-121C>T - - HBB_01660 HbVar beta (0 or + unclear) thal dbSNP;Old J (E-5816-2010); Protein Amino -71 (C>T) 1 D013789
+?/? 1 HBB:c.-122T>A - - HBB_01926 HbVar beta+ thal PIRASTRU, M. and coll.; HbVar A-2391-2010; Protein Amino -72 (T>A) beta+ 1 D013789
+?/? 1 HBB:c.-126C>A - - HBB_02035 - beta+ thal IVALDI G; HbVar A-2391-2010; Protein Amino beta nt -76 C>A 1 -
+?/? 1 HBB:c.-127G>C - - HBB_01982 - beta+ thal Bilgen T et al.; Protein Amino beta nt -77 G>C 1 -
+?/? 1 HBB:c.-136C>A - - HBB_01082 HbVar beta+ thal dbSNP;Meloni A et al.; DNA SEQ -86 (C->A) beta+ 1 D013789
+?/? 1 HBB:c.-136C>G - - HBB_01083 HbVar beta+ thal (OMIM 0375);dbSNP;Thein SL et al.;Kazazian HH Jr et al.; DNA SEQ -86 (C->G) beta+ 1 D013789
+?/? 1 HBB:c.-137C>A - - HBB_01079 HbVar beta+ thal dbSNP;Coleman MB et al.; DNA SEQ -87 (C->A) beta+ 1 D013789
+?/? 1 HBB:c.-137C>G - - HBB_01080 HbVar beta+ thal (OMIM 0374);dbSNP;Ilhan O et al.;Gilman JG et al.;Camaschella C et al.;Diaz-Chico JC et al.; DNA SEQ -87 (C->G) beta+ 1 D013789
+?/? 1 HBB:c.-137C>T - - HBB_01081 HbVar beta+ thal dbSNP;Kulozik AE et al.; DNA SEQ -87 (C->T) beta+ 1 D013789
+?/? 1 HBB:c.-138C>A - - HBB_01077 HbVar beta+ thal (OMIM 0373);dbSNP;Rund D et al.; DNA SEQ -88 (C->A) beta+ 1 D013789
+?/? 1 HBB:c.-138C>G - - HBB_01659 HbVar beta (0 or + unclear) thal dbSNP;Old J (E-5816-2010); Protein Amino -88 (C>G) 1 D013789
+?/? 1 HBB:c.-138C>T - - HBB_01078 HbVar beta+ thal (OMIM 0372);dbSNP;Huisman TH et al.;Gonzalez-Redondo JM et al.;Beris P et al.;Wong C et al.; DNA SEQ -88 (C->T) beta+ 1 D013789
+?/? 1 HBB:c.-140C>T - - HBB_01076 HbVar beta+ thal (OMIM 0425);dbSNP;Faustino P et al.; DNA SEQ -90 (C->T) beta+ 1 D013789
+?/? 1 HBB:c.-142C>T - - HBB_01075 HbVar beta+ thal (OMIM 0371);dbSNP;Rosatelli MC et al.;Divoky V et al.;Kazazian HH Jr et al.; DNA SEQ -92 (C->T) beta+ (mild) 1 D013789
+?/? 1 HBB:c.-143C>G - - HBB_01342 HbVar beta+ thal dbSNP;Giordano PC (A-9724-2010);Harteveld CL (E-4552-2010); DNA SEQ -93 C>G 1 D013789
+?/? 1 HBB:c.-151C>T - - HBB_01031 HbVar beta+ thal (OMIM 0370);dbSNP;Rund D et al.;Baysal E et al.;Galanello R et al.;Ristaldi MS et al.; DNA SEQ -101 (C->T) beta+ (silent) 1 D013789
+?/? 1 HBB:c.-176C>T - - HBB_01872 HbVar rare variant BASU Anupam (K-1838-2014)LALL Pinki; PANJA Amtita; SAHA Dipankar; HbVar A-2391-2010; Protein Amino beta -176(C>T) 1 -
+?/? 1 HBB:c.-176_92+25del - - HBB_01267 HbVar beta0 thal Aulehla-Scholz C et al.;Diaz-Chico JC et al.; Protein Amino 290 bp deletion beta0 1 D013789
+?/? 1 HBB:c.-18C>G - - HBB_01095 HbVar beta+ thal dbSNP;Ho PJ et al.; DNA SEQ 5'UTR; +33 (C->G) beta+ (silent) 1 D013789
+?/? 1 HBB:c.-273T>C - - HBB_01957 - beta+ thal Nagar R et al.; Protein Amino beta nt -223 T>C 1 -
+?/? 1 HBB:c.-29G>A - - HBB_01094 HbVar beta+ thal dbSNP;Cai SP et al.;Oner R et al.; DNA SEQ 5'UTR; +22 (G->A) beta+ 1 D013789
+?/? 1 HBB:c.-31C>T - - HBB_01339 HbVar rare variant dbSNP;Seelig HP; Wiemann C (B-1746-2010);HbVar A-2391-2010;Ropero P et al.; DNA SEQ 5'UTR; +20 (C>T) 1 -
+?/? 1 HBB:c.-41delT - - HBB_01093 HbVar beta+ thal dbSNP;Athanassiadou A et al.; DNA SEQ 5'UTR; +10 (-T) beta+ (silent) 1 D013789
+?/? 1 HBB:c.-504_28del - - HBB_01268 HbVar beta0 thal Waye JS et al.; DNA SEQ 532 bp deletion beta0 1 D013789
+?/? 1 HBB:c.-50A>C - - HBB_01092 HbVar beta+ thal (OMIM 0387);dbSNP;Wong C et al.; DNA SEQ CAP +1 (A->C) beta+ 1 D013789
+?/? 1-2 HBB:c.-528_251del - - HBB_01678 HbVar beta0 thal Old J (E-5816-2010);Gallienne AE et al.; Protein Amino Afghan deletion beta0 (909 bp del) 1 D013789
+?/? 1 HBB:c.-6G>C - - HBB_01941 HbVar rare variant Sahoo SS et al.; Protein Amino HBB:c.-6G>C 1 -
+?/? 1 HBB:c.-74_31del - - HBB_01266 HbVar beta0 thal - Protein Amino 105 bp deletion beta0 1 D013789
+?/? 1 HBB:c.-75G>C - - HBB_01351 HbVar beta (0 or + unclear) thal dbSNP;Eng B; Waye JS (E-4075-2010);HbVar A-2391-2010;Eng B et al.; DNA SEQ -25 (G>C) 1 D013789
+?/? 1 HBB:c.-76A>C - - HBB_01667 HbVar beta (0 or + unclear) thal dbSNP;Waye JS (E-4075-2010); Protein Amino -26 A>C 1 D013789
+?/? 1 HBB:c.-77_-76delAA - - HBB_01353 HbVar beta (0 or + unclear) thal dbSNP;Eng B; Waye JS (E-4075-2010);HbVar A-2391-2010;Eng B et al.; DNA SEQ -27 (-AA) 1 D013789
+?/? 1 HBB:c.-78A>C - - HBB_01090 HbVar beta+ thal (OMIM 0380);dbSNP;Poncz M et al.; DNA SEQ -28 (A->C) beta+ 1 D013789
+?/? 1 HBB:c.-78A>G - - HBB_01091 HbVar beta+ thal (OMIM 0381);dbSNP;Orkin SH et al.; DNA SEQ -28 (A->G) beta+ 1 D013789
+?/? 1 HBB:c.-79A>G - - HBB_01089 HbVar beta+ thal (OMIM 0379);dbSNP;Gonzalez-Redondo JM et al.;Atweh GF et al.;Huisman TH et al.;Gonzalez-Redondo JM et al.; DNA SEQ -29 (A->G) beta+ 1 D013789
+?/? 1 HBB:c.-80T>A - - HBB_01087 HbVar beta+ thal (OMIM 0377);dbSNP;Fattoum S et al.;Fei YJ et al.; DNA SEQ -30 (T->A) beta+ 1 D013789
+?/? 1 HBB:c.-80T>C - - HBB_01088 HbVar beta (0 or + unclear) thal (OMIM 0378);dbSNP;Cai SP et al.; DNA SEQ -30 (T->C) beta (0 or + unclear) 1 D013789
+?/? 1 HBB:c.-80T>G - - HBB_01661 HbVar beta (0 or + unclear) thal dbSNP;Old J (E-5816-2010); Protein Amino -30 T>G 1 D013789
+?/? 1 HBB:c.-81A>C - - HBB_01085 HbVar beta+ thal dbSNP;Cao A; HbVar A-2391-2010; Protein Amino -31 (A->C) beta+ 1 D013789
+?/? 1 HBB:c.-81A>G - - HBB_01086 HbVar beta+ thal (OMIM 0376);dbSNP;Takihara Y et al.; DNA SEQ -31 (A->G) beta+ 1 D013789
+?/? 1 HBB:c.-82C>A - - HBB_01084 HbVar beta+ thal (OMIM 0406);dbSNP;Lin LI et al.; DNA SEQ -32 (C->A) beta+ 1 D013789
+?/? 1 HBB:c.-82C>T - - HBB_01352 HbVar beta (0 or + unclear) thal dbSNP;Eng B; Waye JS (E-4075-2010);HbVar A-2391-2010;Eng B et al.; DNA SEQ -32 (C>T) 1 D013789
+?/? 1 HBB:c.-92C>G - - HBB_01956 - rare variant Nagar R et al.; Protein Amino beta nt -42 C>G 1 -
+?/? 1 HBB:c.10C>A - p.Leu4Met HBB_01653 HbVar Hb variants dbSNP; DNA SEQ Hb Niguarda 1 D006455
+?/? 1 HBB:c.10C>G - p.Leu4Val HBB_01274 HbVar Hb variants dbSNP;Harano T; HbVar A-2391-2010; Protein Amino Hb Kamakura 1 D006455
+?/? 1 HBB:c.11T>A - p.Leu4Gln HBB_01370 HbVar Hb variants dbSNP;Gallivan M (A-9986-2010); DNA SEQ Hb Santo Domingo 1 D006455
+?/? 1 HBB:c.11T>C - p.Leu4Pro HBB_01679 HbVar Hb variants dbSNP;Gallivan M (A-9986-2010); Protein Amino Hb Jabalpur 1 D006455
+?/? 1 HBB:c.13A>C - p.Thr5Pro HBB_01652 HbVar Hb variants dbSNP;Old J (E-5816-2010); DNA SEQ Hb Benin City 1 D006455
+?/? 1 HBB:c.14C>A - p.Thr5Asn HBB_01343 HbVar Hb variants dbSNP;Bisse E et al.; DNA SEQ Hb Wurzburg 1 D006455
+?/? 1 HBB:c.16C>G - p.Pro6Ala HBB_01304 HbVar Hb variants dbSNP;Ito S et al.;Bisse E et al.; DNA SEQ Hb Gorwihl 1 D006455
+?/? 1 HBB:c.16C>T - p.Pro6Ser HBB_00677 HbVar Hb variants (OMIM 0451);dbSNP;Langdown JV et al.; Protein Amino Hb Tyne 1 C091966
+?/? 1 HBB:c.17C>G - p.Pro6Arg HBB_00676 HbVar Hb variants (OMIM 0296);dbSNP;SwissVar VAR_002861;Wilson CI et al.; Protein Amino Hb Warwickshire 1 C043183
+?/? 1 HBB:c.17C>T - p.Pro6Leu HBB_01613 HbVar Hb variants dbSNP;Couprie N; Francina A (E-3974-2010);Griffon C; Jolly P; HbVar A-2391-2010;Joly P et al.; DNA SEQ Hb Aix-les-Bains 1 D006455
+?/? 1 HBB:c.17_18delCT - - HBB_01105 HbVar beta0 thal dbSNP;Kollia P et al.; DNA SEQ Codon 5 (-CT); CCT(Pro)->C-- beta0 1 D013789
+?/? 1 HBB:c.18_19delTG - - HBB_01662 HbVar beta (0 or + unclear) thal dbSNP;Old J (E-5816-2010); Protein Amino Codon 5/6 (-TG) 1 D013789
+?/? 1 HBB:c.19G>A - p.Glu7Lys HBB_00679 HbVar Hb variants (OMIM 0038);dbSNP;SwissVar VAR_002864; Protein Amino Hb C 1 D006444
+?/? 1 HBB:c.19G>C - p.Glu7Gln HBB_00681 HbVar Hb variants (OMIM 0166);dbSNP;SwissVar VAR_002865;Harano T et al.; Protein Amino Hb Machida 1 C036256
+?/? 1 HBB:c.1A>G - p.Met1Val HBB_01097 HbVar beta0 thal dbSNP;Hattori Y et al.; DNA SEQ Initiation codon ATG->GTG beta0 1 D013789
+?/? 1 HBB:c.20A>C - p.Glu7Ala HBB_00680 HbVar Hb variants (OMIM 0085);dbSNP;SwissVar VAR_002862;Viprakasit V et al.;Blackwell RQ et al.; Protein Amino Hb G-Makassar 1 C475065
+?/? 1 HBB:c.20A>G - p.Glu7Gly HBB_01367 HbVar Hb variants dbSNP;Arsenio R; Dagna-Bricarelli F; Deiana F; Devoto G; Ivaldi G; Leone D; Parastatidou S; Tanca D; HbVar A-2391-2010; DNA SEQ Hb Lavagna 1 D006455
+?/? 1 HBB:c.20A>T - p.Glu7Val HBB_00678 HbVar Hb variants (OMIM 0243);dbSNP;SwissVar VAR_002863; Protein Amino Hb S 1 D006455
+?/? 1 HBB:c.20delA - - HBB_01106 HbVar beta0 thal dbSNP;Petkov GH et al.;Kazazian HH Jr et al.;Gonzalez-Redondo JM et al.; Protein Amino Codon 6 (-A); GAG(Glu)->G-G beta0 1 D013789
+?/? 1 HBB:c.20_45del - - HBB_01791 HbVar beta0 thal Edison ES et al.; Protein Amino HBB:c.20_45del26 1 D013789
+?/? 1 HBB:c.22G>A - p.Glu8Lys HBB_00683 HbVar Hb variants (OMIM 0263);dbSNP;SwissVar VAR_002867;Blackwell RQ et al.; Protein Amino Hb G-Siriraj 1 C048606
+?/? 1 HBB:c.22G>C - p.Glu8Gln HBB_01738 HbVar Hb variants dbSNP;Nardi M (B-5642-2011);Edison ES et al.; Protein Amino Hb Bellevue III 1 D006455
+?/? 1 HBB:c.22_24delGAG - - HBB_01057 HbVar Hb variants (OMIM 0156);dbSNP;Juricic D et al.;Rieder RF et al.;Lie-Injo LE et al.;Rieder RF et al.; Protein Amino Hb Leiden 1 C029445
+?/? 1 HBB:c.23A>G - p.Glu8Gly HBB_00682 HbVar Hb variants (OMIM 0086);dbSNP;SwissVar VAR_002866;Lacerra G et al.;Brancati C et al.;Wilson JB et al.;Musumeci S et al.; Protein Amino Hb G-San José 1 C032126
+?/? 1 HBB:c.23A>T - p.Glu8Val HBB_01911 HbVar Hb variants GIORDANO P. C.; HARTEVELD C. L.; HbVar A-2391-2010;Harteveld CL et al.; Protein Amino Hb Haaglanden 1 D006455
+?/? 1 HBB:c.23_26dup - - HBB_01844 HbVar beta0 thal PISSARD S. (F-8621-2010);Georgel AF et al.; Protein Amino Codons 8/9 (+AGAA) 1 D013789
+?/? 1 HBB:c.24G>T - p.Glu8Asp HBB_01719 HbVar Hb variants dbSNP;Bergman AC et al.; Protein Amino Hb Stockholm 1 D006455
+?/? 1 HBB:c.24_25insG - - HBB_01881 HbVar beta0 thal KUCEROVA Jana (F-1726-2013)Kynclova E et al.; Protein Amino Codons 7/8 (+G); GAG AAG(Glu;Lys)->GAG G AAG beta0 1 -
+?/? 1 HBB:c.25A>C - p.Lys9Gln HBB_00685 HbVar Hb variants (OMIM 0135);dbSNP;SwissVar VAR_002869; Protein Amino Hb J-Luhe 1 D006455
+?/? 1 HBB:c.25A>G - p.Lys9Glu HBB_00686 HbVar Hb variants (OMIM 0191);dbSNP;SwissVar VAR_002868;Lena-Russo D et al.; Protein Amino Hb N-Timone 1 C031031
+?/? 1 HBB:c.25_26delAA - - HBB_01107 HbVar beta0 thal dbSNP;Yang KG et al.;Orkin SH et al.;Orkin SH et al.; DNA SEQ Codon 8 (-AA); AAG(Lys)->--G beta0 1 D013789
+?/? 1 HBB:c.26A>C - p.Lys9Thr HBB_00684 HbVar Hb variants (OMIM 0237);dbSNP;SwissVar VAR_002870;Moo-Penn WF et al.; Protein Amino Hb Rio Grande 1 C037712
+?/? 1 HBB:c.26A>G - p.Lys9Arg HBB_01337 HbVar Hb variants dbSNP;Agarwal S et al.; Protein Amino Hb Lucknow 1 C401761
+?/? 1 HBB:c.26A>T - p.Lys9Met HBB_00687 HbVar Hb variants (OMIM 0460);dbSNP;Harano K et al.; Protein Amino Hb Nakano 1 C098895
+?/? 1 HBB:c.27G>C - p.Lys9Asn HBB_01282 HbVar Hb variants (OMIM 0504);dbSNP;Kleanthous M; HbVar A-2391-2010;Kyrri A et al.; DNA SEQ Hb Limassol 1 C473011
+?/? 1 HBB:c.27_28insG - - HBB_01108 HbVar beta0 thal (OMIM 0325);dbSNP;Pande PL et al.; DNA SEQ Codons 8/9 (+G); AAG TCT(Lys;Ser)->AAG G TCT beta0 1 D013789
+?/? 1 HBB:c.29C>A - p.Ser10Tyr HBB_01315 HbVar Hb variants (OMIM 0534);dbSNP;Francina A (E-3974-2010);Lacan P et al.; Protein Amino Hb Brem-sur-Mer 1 C502561
+?/? 1 HBB:c.29C>G - p.Ser10Cys HBB_00688 HbVar Hb variants (OMIM 0224);dbSNP;SwissVar VAR_002871;Baudin-Creuza V et al.;Goncalves MS et al.;Malcorra-Azpiazu JJ et al.; Protein Amino Hb Pôrto Alegre 1 C034991
+?/? 1 HBB:c.29C>T - p.Ser10Phe HBB_02044 - Hb variants Anping XU (K-9299-2018) Protein Amino Hb Hengyang 1 -
+?/? 1 HBB:c.2T>A - p.Met1Lys HBB_01348 HbVar beta (0 or + unclear) thal dbSNP;Lacan P et al.; DNA SEQ Initiation codon T>A 1 D013789
+?/? 1 HBB:c.2T>C - p.Met1Thr HBB_01098 HbVar beta0 thal (OMIM 0345);dbSNP;Jankovic L et al.; DNA SEQ Initiation codon ATG->ACG beta0 1 D013789
+?/? 1 HBB:c.2T>G - p.Met1Arg HBB_01099 HbVar beta0 thal (OMIM 0344);dbSNP;Koo MS et al.;Lam VM et al.; DNA SEQ Initiation codon ATG->AGG beta0 1 D013789
+?/? 1 HBB:c.30delT - - HBB_02041 - Hb variants KIRAT Emre (W-4436-2018) Protein Amino Hb Antep 1 -
+?/? 1 HBB:c.30_31insT - - HBB_01109 HbVar beta0 thal dbSNP; DNA SEQ Codons 9/10 (+T); TCT GCC(Ser;Ala)->TCT T GCC beta0 1 D013789
+?/? 1 HBB:c.30_dupT - - HBB_02051 - Hb variants KIRAT Emre; HbVar A-2391-2010; Protein Amino Hb Gaziantep 1 -
+?/? 1 HBB:c.31G>A - p.Ala11Thr HBB_01371 HbVar Hb variants dbSNP;Gallivan M. (A-9986-2010);Williams JP et al.; DNA SEQ Hb Belleville 1 D006455
+?/? 1 HBB:c.32C>A - p.Ala11Asp HBB_00689 HbVar Hb variants (OMIM 0009);dbSNP;SwissVar VAR_002872;Arcasoy A et al.;Hidaka K et al.; Protein Amino Hb Ankara 1 C033986
+?/? 1 HBB:c.32C>T - p.Ala11Val HBB_00690 HbVar Hb variants (OMIM 0483);dbSNP;SwissVar VAR_025393;Deutsch S et al.; Protein Amino Hb Iraq-Halabja 1 C120162
+?/? 1 HBB:c.33C>A - p.Ala11Ala HBB_01110 HbVar beta+ thal dbSNP;Barnaby Clark (G-6612-2010);Matthew Oakley (G-8434-2014);Pawar AR et al.; Protein Amino Codon 10 (C->A); GCC(Ala)->GCA(Ala) beta+ 1 D013789
+?/? 1 HBB:c.34G>A - p.Val12Ile HBB_00691 HbVar Hb variants (OMIM 0099);dbSNP;SwissVar VAR_002874;Manca L et al.;Su CW et al.;Wong SC et al.; Protein Amino Hb Hamilton 1 C040089
+?/? 1 HBB:c.34G>T - p.Val12Phe HBB_00693 HbVar Hb variants (OMIM 0446);dbSNP; Protein Amino Hb Washtenaw 1 C091965
+?/? 1 HBB:c.35T>A - p.Val12Asp HBB_00692 HbVar Hb variants (OMIM 0299);dbSNP;SwissVar VAR_002873;Gilbert AT et al.; Protein Amino Hb Windsor 1 C062068
+?/? 1 HBB:c.36delT - - HBB_01111 HbVar beta0 thal dbSNP;Perea FJ et al.;Economou EP et al.; DNA SEQ Codon 11 (-T); GTT(Val)->GT- beta0 1 D013789
+?/? 1 HBB:c.37A>C - p.Thr13Pro HBB_01954 - Hb variants Brennan SO et al.;Ghallyan N et al.; DNA SEQ Hb Ashburton 1 -
+?/? 1 HBB:c.38C>T - p.Thr13Ile HBB_01868 HbVar Hb variants - Protein Amino Hb William-Harvey 1 -
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Legend: [ HBB 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. HBB 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