LOVD - Variant listings for HBB

About this overview [Show]

1004 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

DB-ID Hide DB-ID column Descending
Ascending

HbVar link Hide HbVar link column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

Re-site Hide Re-site 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

Ethnic origin Hide Ethnic origin column Descending
Ascending

Disease Mesh ID Hide Disease Mesh ID column Descending
Ascending

Geographic origin Hide Geographic origin column Descending
Ascending
+?/? 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.-126C>A - - HBB_02212 - - - 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.-127G>C - - HBB_02190 - - - 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.-273T>C - - HBB_02182 - - - Thalassemia dbSNP;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.-92C>G - - HBB_02181 - - - Thalassemia dbSNP;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.11T>G - p.Leu4Arg HBB_02233 - - - Hb variants James D. Hoyer (F-7016-2010) DNA SEQ Hb Sedgwick 1 - - -
+?/? 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.14C>T - p.Thr5Ile HBB_02241 - - - Hb variants James D. Hoyer (F-7016-2010) DNA SEQ Hb Fox Point 1 - - -
+?/? 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.29C>T - p.Ser10Phe HBB_02218 - - - 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.30delT - - HBB_02216 - - - 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.30_dupT - - HBB_02219 - - - 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 - 100
[<-] 1 2 3 4 5 6 ... [->] [>>]


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

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 Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. 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 Ethnic origin: Ethnic origin of patient Disease Mesh ID: Mesh ID Geographic origin: Geographic origin of patient