Unique variants in the HBB gene

Information The variants shown are described using the NM_000518.4 transcript reference sequence.

131 entries on 2 pages. Showing entries 1 - 100.
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Effect     
Reported     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Type     
DNA change (genomic) (hg19)     
Reference     
DB-ID     
Frequency     
Variant remarks     
ClassClinical     
Owner     
./. 1 01-03 c.-113398_*89719dup r.0? p.0? Duplication g.5157109_5361649dup Shang et al HBD_000031 - 204k dup Uncertain significance Qi Ming
./. 1 01-03 c.-36760_*29624dup r.0? p.0? Duplication g.5217204_5285011dup Shang et al HBD_000025 - 67.8k dup Uncertain significance Qi Ming
./. 1 01-03 c.-25000_*52854del r.0? p.0? Deletion g.5193974_5273251del Kosteas T et al HBD_000022 - HPFH-6 Pathogenic Qi Ming
./. 1 01-03 c.-23432_*67556del r.0? p.0? Deletion g.5179272_5271683del Wu et al HBD_000020 - Chinese Ggamma(Agammadeltabeta)0-Thal Pathogenic Qi Ming
./. 1 01-03 c.-22952_*42752del r.0? p.0? Deletion g.5204076_5271203del Shang et al HBD_000023 - Yunnanese Pathogenic Qi Ming
./. 1 01-03 c.-22836_*132del r.0? p.0? Deletion g.5246696_5271087del Shang et al HBG1_000018 - cantonese Pathogenic Qi Ming
./. 1 01-03 c.-21800_*55680del r.0? p.0? Deletion g.5191148_5270051del Mager et al HBD_000021 - Chinese Ggamma(Agammadeltabeta)0-Thal Pathogenic Qi Ming
./. 1 01-03 c.-20572_363del r.? p.? Deletion g.5246909_5268823del Shang et al HBD_000027 - 21.9k del Pathogenic Qi Ming
./. 1 01-03 c.-6971_298del r.? p.? Deletion g.5247824_5255222del Shang et al HBD_000029 - 7.3k del Pathogenic Qi Ming
./. 1 01-03 c.-5922_*111364del r.0? p.0? Deletion g.5135464_5254173del Shang et al HBD_000019 - β118k del Pathogenic Qi Ming
./. 1 01-03 c.-2037_*23950del r.0? p.0? Deletion g.5222878_5250288del Wang et al HBD_000024 - (SEA)-HPFH (27.411kb β0) Pathogenic Qi Ming
./. 2 - c.-1917C>T r.(=) p.(=) Substitution g.5250168G>A GenBank;dbSNP HBB_000001 - - uncertain significance Qi Ming
./. 1 01-03 c.-598_315+314del r.? p.? Deletion g.5247493_5248849del Lou et al HBB_000119 - Taiwanese Pathogenic Qi Ming
./. 1 01 c.-249T>C r.(=) p.(=) Substitution g.5248500A>G Xiong et al HBB_000004 - -199 (T>C) Pathogenic Qi Ming
./. 1 01 c.-140C>T r.(=) p.(=) Substitution g.5248391G>A (OMIM 0425);dbSNP HBB_000015 - -90 (C->T) Pathogenic Qi Ming
./. 1 01 c.-136C>A r.(=) p.(=) Substitution g.5248387G>T dbSNP;Meloni A et al.; HBB_000016 - -86 (C->A) beta+ Pathogenic Qi Ming
./. 3 01 c.-136C>G r.(=) p.(=) Substitution g.5248387G>C (OMIM 0375);dbSNP, ;(OMIM 0375);dbSNP;Chen et al., (OMIM 0375);dbSNP HBB_000017 - -86 (C->G) Pathogenic Qi Ming
./. 3 01 c.-123A>T r.(=) p.(=) Substitution g.5248374T>A Chen et al., Chen et al., Chen et al HBB_000018 - -73 (A->T), -73 A->T Pathogenic Qi Ming
./. 1 01 c.-100G>A r.(=) p.(=) Substitution g.5248351C>T dbSNP;Li DZ et al.; HBB_000019 - -50 G>A Pathogenic Qi Ming
./. 1 01 c.-82C>A r.(=) p.(=) Substitution g.5248333G>T (OMIM 0406);dbSNP;Lin LI et al.; HBB_000020 - -32 (C->A) beta+ Pathogenic Qi Ming
./. 1 01 c.-81A>C r.(=) p.(=) Substitution g.5248332T>G dbSNP; HBB_000021 - -31 (A->C) beta+ Pathogenic Qi Ming
./. 1 01 c.-80T>C r.(=) p.(=) Substitution g.5248331A>G (OMIM 0378);dbSNP;Cai SP et al.; HBB_000120 - -30 (T->C) beta (0 or + unclear) Pathogenic Qi Ming
./. 1 01 c.-78A>C r.(=) p.(=) Substitution g.5248329T>G (OMIM 0380);dbSNP;Poncz M et al.; HBB_000022 - -28 (A->C) beta+ Pathogenic Qi Ming
./. 2 01 c.-78A>G r.(=) p.(=) Substitution g.5248329T>C (OMIM 0381);dbSNP;Chen et al., (OMIM 0381);dbSNP;Orkin SH et al.; HBB_000023 - -28 (A->G), -28 (A->G) beta+ Pathogenic Qi Ming
./. 1 01 c.-77A>G r.(=) p.(=) Substitution g.5248328T>C Wu et al HBB_000024 - -27 (A->G) Pathogenic Qi Ming
./. 1 01 c.-75G>T r.(=) p.(=) Substitution g.5248326C>A Li et al HBB_000025 - -25 (G->T) Pathogenic Qi Ming
./. 1 01 c.-50A>C r.(=) p.(=) Substitution g.5248301T>G (OMIM 0387);dbSNP;Wong C et al.; HBB_000027 - CAP +1 (A->C) beta+ Pathogenic Qi Ming
./. 1 01 c.-43C>T r.(=) p.(=) Substitution g.5248294G>A Ma et al HBB_000026 - Cap +8 (C->T) Pathogenic Qi Ming
./. 2 01 c.-29G>A r.(=) p.(=) Substitution g.5248280C>T dbSNP;Chen et al., dbSNP;Cai SP et al.;Oner R et al.; HBG1_000014 - Cap +22 (G->A), 5'UTR; +22 (G->A) beta+ Pathogenic Qi Ming
./. 1 01 c.-23A>G r.(=) p.(=) Substitution g.5248274T>C - HBB_000028 - 1 more item Pathogenic Qi Ming
./. 1 01 c.-11_-8delAAAC r.(=) p.(=) Deletion g.5248259_5248262delGTTT Huang et al;dbSNP HBB_000029 - Cap +43/+40 (-AAAC) Pathogenic Qi Ming
./. 1 03 c.*108A>C r.(=) p.(=) Substitution g.5246720T>G Ma et al HBB_000010 - Poly A (A->C); AATAAA->CATAAA beta+ Pathogenic Qi Ming
./. 1 03 c.*108A>G r.(=) p.(=) Substitution g.5246720T>C - HBB_000011 - 1 more item Pathogenic Qi Ming
./. 2 03 c.*110T>C r.(=) p.(=) Substitution g.5246718A>G (OMIM 0328);dbSNP;Altay et al., (OMIM 0382);dbSNP;Altay C et al.; HBB_000008 - Poly A (T->C): AATAAA->AACAAA beta+, Poly A (T->C); AATAAA->AACAAA beta+ Pathogenic Qi Ming
./. 1 03 c.*111A>G r.(=) p.(=) Substitution g.5246717T>C (OMIM 0399);dbSNP;Jankovic L et al.; HBB_000012 - Poly A (A->G); AATAAA->AATGAA beta+ Pathogenic Qi Ming
./. 1 03 c.*112A>G r.(=) p.(=) Substitution g.5246716T>C (OMIM 0386);dbSNP;Jankovic L et al.; HBB_000013 - Poly A (A->G); AATAAA->AATAGA beta+ Pathogenic Qi Ming
./. 2 03 c.*32A>C r.(=) p.(=) Substitution g.5246796T>G Chen et al. HBB_000014 - Term CD +32(A->C) Pathogenic Qi Ming
./. 1 01 c.-12C>T r.(=) p.(=) Substitution g.5248263G>A Xiong et al HBB_000003 - Cap +39 C->T Pathogenic Qi Ming
./. 1 01-03 c.-4338_*112715del r.0? p.0? Deletion g.5134113_5252589del Shang et al HBB_000118 - Filipino del Pathogenic Qi Ming
./. 1 01 c.-79A>C r.(=) p.(=) Substitution g.5248330T>G Li et al HBB_000030 - -29 A->C Pathogenic Qi Ming
./. 2 01 c.-79A>G r.(=) p.(=) Substitution g.5248330T>C (OMIM 0379)；dbSNP；Chen et al., Chen et al.;(OMIM 0379);dbSNP HBB_000005 - -29 (A->G) Pathogenic Qi Ming
./. 1 02 c.126_130delinsA r.(?) p.(Phe42Leufs*19) Insertion/Deletion g.5247992_5247996delinsT Liao et al HBB_000031 - Codons 42/44 (-CTTTG,+A) Pathogenic Qi Ming
./. 1 2 c.259_260delinsAT r.(?) p.(Ala87Ile) Insertion/Deletion g.5247862_5247863delinsAT Shang X,et al.(2017) HBB_000009 - - - Qianqian Zhang
+/+ 1 - c.408delT r.(?) p.(Gly137Valfs*22) Deletion g.5246864delA Shang et al HBB_000032 - - Pathogenic Qi Ming
./. 1 01 c.2T>C r.? p.? Substitution g.5248250A>G Zhang et al;(OMIM 0345);dbSNP HBB_000033 - Initiation codon ATG->ACG Pathogenic Qi Ming
./. 1 01 c.2T>G r.? p.? Substitution g.5248250A>C (OMIM 0344);dbSNP;Koo MS et al.;Lam VM et al.; HBB_000034 - Initiation codon ATG->AGG beta0 Pathogenic Qi Ming
./. 1 01 c.3G>A r.? p.? Substitution g.5248249C>T (OMIM 0430);dbSNP;Landin B et al.;Saba L et al.; HBB_000035 - Initiation codon ATG->ATA beta0 Pathogenic Qi Ming
./. 1 01 c.4G>T r.(?) p.(Val2Leu) Substitution g.5248248C>A (OMIM 0471);dbSNP;Ohba Y et al.; HBB_000036 - Hb Niigata pathogenic Qi Ming
./. 1 01 c.17_18delCT r.(?) p.(Pro6Argfs*17) Deletion g.5248234_5248235delAG dbSNP;Zhang et al HBB_000037 - Codon 5 (-CT) Pathogenic Qi Ming
./. 1 01 c.19G>A r.(?) p.(Glu7Lys) Substitution g.5248233C>T (OMIM 0038);dbSNP; HBB_000038 - Hb C Pathogenic Qi Ming
./. 7 01 c.20A>T r.(?) p.(Glu7Val) Substitution g.5248232T>A (OMIM 0243);dbSNP, Kutlar F et al., ;(OMIM 0039);Moo-Penn W et al.;Lang A et al.;Bookchin RM et al., 2 more items HBB_000039 - Hb S, Hb S-Wake, Hb C-Harlem, Hb S-Antilles, Hb S-Providence Pathogenic Qi Ming
./. 1 01 c.25_26delAA r.(?) p.(Lys9Valfs*14) Deletion g.5248226_5248227delTT (OMIM 785);dbSNP;Li et al HBB_000040 - Codon 8 (-AA) Pathogenic Qi Ming
./. 1 01 c.27_28insG r.(?) p.(Ser10Valfs*14) Insertion g.5248224_5248225insC (OMIM 0325);dbSNP HBB_000041 - Codons 8/9 (+G);Analysis of a case of rare prenatal diagnosis of severe β-thalassemia Pathogenic Qi Ming
./. 1 01 c.34G>A r.(?) p.(Val12Ile) Substitution g.5248218C>T (OMIM 0099);dbSNP;Manca L et al.;Su CW et al.;Wong SC et al.; HBB_000042 - Hb Hamilton Uncertain significance Qi Ming
./. 1 01 c.41C>T r.(?) p.(Ala14Val) Substitution g.5248211G>A Shang et al HBB_000043 - Hb variant Uncertain significance Qi Ming
./. 1 01 c.43delC r.(?) p.(Leu15Cysfs*5) Deletion g.5248209delG Li et al HBB_000044 - Codon 15 (-C) Pathogenic Qi Ming
./. 1 01 c.45_46insG r.(?) p.(Trp16Valfs*8) Insertion g.5248206_5248207insC Xiong et al HBB_000045 - Codons 14/15 (+G) Pathogenic Qi Ming
./. 1 01 c.48_49insG r.(?) p.(Lys18Glnfs*6) Insertion g.5248203_5248204insC Mo et al HBB_000046 - Codon 17 (+G) Pathogenic Qi Ming
./. 2 01 c.52A>T r.(?) p.(Lys18*) Substitution g.5248200T>A (OMIM 0311)；dbSNP；Chen et al., (OMIM 0311);dbSNP;Chang JC et al.; HBB_000047 - Codon 17 (A->T), Codon 17 (A->T); AAG(Lys)->TAG(stop codon) beta0 Pathogenic Qi Ming
./. 1 01 c.59A>G r.(?) p.(Asn20Ser) Substitution g.5248193T>C (OMIM 0168);dbSNP;Ma SK et al.;Thein SL et al.;Yang KG et al.; HBB_000048 - Hb Malay Pathogenic Qi Ming
./. 1 01 c.68A>C r.(?) p.(Glu23Ala) Substitution g.5248184T>G (OMIM 0081);dbSNP;Li J et al.;el-Hashemite N et al.;Dincol G et al.;Blackwell RQ et al.; HBB_000049 - Hb G-Coushatta Uncertain significance Qi Ming
./. 2 01 c.68A>G r.(?) p.(Glu23Gly) Substitution g.5248184T>C (OMIM 0088);dbSNP;Han et al., (OMIM 0088);dbSNP;Landman H et al.; HBB_000050 - Hb G-Taipei Uncertain significance Qi Ming
./. 2 01 c.79G>A r.(?) p.(Glu27Lys) Substitution g.5248173C>T (OMIM 0071);dbSNP;Chen et al., (OMIM 0071);dbSNP;Flatz G et al.;Indrak K et al.;Kazazian HH Jr et al.; HBB_000051 - Hb E Pathogenic Qi Ming
./. 1 01 c.83C>A r.(?) p.(Ala28Asp) Substitution g.5248169G>T (OMIM 0295);dbSNP;Kuis-Reerink JD et al.;Idelson LI et al.; HBB_000052 - Hb Volga Pathogenic Qi Ming
./. 2 01 c.84_85insC r.(?) p.(Leu29Profs*16) Insertion g.5248167_5248168insG (OMIM 0342);dbSNP;Chen et al., Chen et al.;(OMIM 0342);dbSNP HBB_000053 - Codons 27/28 (+C) Pathogenic Qi Ming
./. 1 01 c.89G>A r.(?) p.(Gly30Asp) Substitution g.5248163C>T (OMIM 0161);dbSNP;Gu LH et al.;Schmidt RM et al.; HBB_000121 - Hb Lufkin Pathogenic Qi Ming
./. 2 01 c.91A>G r.(?) p.(Arg31Gly) Substitution g.5248161T>C dbSNP;Chen et al., dbSNP;Waye JS et al.; HBB_000054 - IVS-I-2 or codon 30 (A->G), 1 more item Pathogenic Qi Ming
./. 2 01 c.92+1G>T r.spl? p.? Substitution g.5248159C>A (OMIM 0347);dbSNP;Chen et al., (OMIM 0347);dbSNP;Kazazian HH Jr et al.; HBB_000058 - IVS-I-1 (G->T), IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT beta0 Pathogenic Qi Ming
./. 1 01 c.92+2T>C r.spl? p.? Substitution g.5248158A>G (OMIM 0350);dbSNP;Goncalves J et al.;Gonzalez-Redondo JM et al.; HBB_000059 - IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT beta0 Pathogenic Qi Ming
./. 2 01 c.92+5G>A r.spl? p.? Substitution g.5248155C>T (OMIM 0359);dbSNP;Lapoumeroulie C et al., 1 more item HBB_000060 - IVS-I-5 (G->A) beta+ (severe), IVS-I-5 (G->A) plus the Corfu deletion (deltabeta-thal) beta+ Pathogenic Qi Ming
./. 1 01 c.92+5G>C r.spl? p.? Substitution g.5248155C>G (OMIM 0357);dbSNP;Kulozik AE et al.;Treisman R et al.;Divoky V et al.;Kazazian HH Jr et al.; HBB_000061 - IVS-I-5 (G->C) beta+ (severe) Pathogenic Qi Ming
./. 2 01 c.92+6T>C r.(=) p.(=) Substitution g.5248154A>G (OMIM 0360);dbSNP;Chen et al., 1 more item HBB_000062 - IVS-I-6 (T->C), IVS-I-6 (T->C); the Portuguese type beta+ Pathogenic Qi Ming
./. 2 01, 02 c.93-21G>A r.(=) p.(=) Substitution g.5248050C>T (OMIM 0364);dbSNP, 1 more item HBB_000063 - IVS-I-110 (G->A), 1 more item Pathogenic Qi Ming
./. 1 02 c.93-15T>G r.(=) p.(=) Substitution g.5248044A>C dbSNP;Metherall JE et al.; HBB_000057 - IVS-I-116 (T->G) beta0; normal mRNA estimated at less than 1.0% Pathogenic Qi Ming
./. 2 01, 02 c.93-3T>G r.spl? p.? Substitution g.5248032A>C (OMIM 0362);dbSNP;Chiou et al., (OMIM 0362);dbSNP;Chiou SS et al.;Wong C et al.; HBB_000056 - IVS-I-128 (T->G), IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG beta+ Pathogenic Qi Ming
./. 1 02 c.93-2A>G r.spl? p.? Substitution g.5248031T>C dbSNP; HBB_000055 - IVS-I-129 (A>G) Pathogenic Qi Ming
./. 1 02 c.93-1G>A r.spl? p.? Substitution g.5248030C>T (OMIM 0356);dbSNP;Deidda G et al.;Oner R et al.; HBB_000064 - IVS-I-130 (G->A); TTAG^GCTG->TTAA GCTG beta0 Pathogenic Qi Ming
./. 2 01, 02 c.93-1G>C r.spl? p.? Substitution g.5248030C>G (OMIM 0418);dbSNP;Chen et al., (OMIM 0418);dbSNP;Yamamoto K et al.; HBB_000065 - IVS-I-130 (G->C), IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG beta0 Pathogenic Qi Ming
./. 1 01 c.94delC r.(?) p.(Leu32Cysfs*30) Deletion g.5248028delG dbSNP HBB_000066 - Codon 31 (-C);Genotyping of Hemoglobinopathies in Jiangsu Province, China Pathogenic Qi Ming
./. 1 02 c.98T>C r.(?) p.(Leu33Pro) Substitution g.5248024A>G (OMIM 0218);dbSNP;Chang JG et al.;Grove SS et al.;Honig GR et al.;Jackson JM et al.; HBB_000067 - Hb Perth Uncertain significance Qi Ming
./. 1 02 c.107A>G r.(?) p.(Tyr36Cys) Substitution g.5248015T>C Wu MY et al.; HBB_000068 - codon 35 (A>G) Uncertain significance Qi Ming
./. 1 02 c.108C>G r.(?) p.(Tyr36*) Substitution g.5248014G>C Wang et al HBB_000069 - Coden 35 (C->G) Pathogenic Qi Ming
./. 2 02 c.109delC r.(?) p.(Pro37Leufs*25) Deletion g.5248013delG - HBB_000070 - Codon 53 (-C), Chinese article, Codon 53 (-C);Analysis of 130 beta-thalassemia gene mutations Pathogenic Qi Ming
./. 2 02 c.110delC r.(?) p.(Pro37Leufs*25) Deletion g.5248012del, g.5248012delG dbSNP;Chen et al., Huang et al;dbSNP HBB_000071 - Codon 37 (-C) Pathogenic Qi Ming
./. 1 02 c.113G>A r.(?) p.(Trp38*) Substitution g.5248009C>T dbSNP;Kornblit B et al.; HBB_000072 - Cd37 (TGG>TAG) Pathogenic Qi Ming
./. 1 02 c.114G>A r.(?) p.(Trp38*) Substitution g.5248008C>T (OMIM 0315);dbSNP;Sadiq MF et al.;Gallano P et al.;Boehm CD et al.; HBB_000075 - Codon 37 (G->A); TGG(Trp)->TGA(stop codon) beta0 Pathogenic Qi Ming
./. 1 02 c.115delA r.(?) p.(Thr39Profs*23) Deletion g.5248007delT Xiong et al HBB_000073 - Codon 39 (-A) Pathogenic Qi Ming
./. 1 02 c.123_124insT r.(?) p.(Phe43Leufs*2) Insertion g.5247998_5247999insA Su et al;dbSNP HBB_000074 - Codons 40/41 (+T) Pathogenic Qi Ming
./. 2 02 c.126_129delCTTT r.(?) p.(Phe42Leufs*19) Deletion g.5247993_5247996delAAAG (OMIM 0326);dbSNP;Chen et al., Chen et al.;dbSNP;(OMIM 0326) HBB_000076 - Codons 41/42 (-TTCT) Pathogenic Qi Ming
./. 1 02 c.128T>C r.(?) p.(Phe43Ser) Substitution g.5247994A>G (OMIM 0100);dbSNP;Tuohy AM et al.;Cunningham TA et al.;May A et al.; HBB_000077 - Hb Hammersmith Pathogenic Qi Ming
./. 2 02 c.130G>T r.(?) p.(Glu44*) Substitution g.5247992C>A (OMIM 0316);dbSNP;Chen et al., (OMIM 0316);dbSNP;Atweh GF et al.; HBB_000078 - Codon 43 (G->T), Codon 43 (G->T); GAG(Glu)->TAG (stop codon) beta0 Pathogenic Qi Ming
./. 2 02 c.135delC r.(?) p.(Phe46Leufs*16) Deletion g.5247987delG dbSNP;Han et al., Han et al;dbSNP HBB_000101 - Codon 44 (-C) Pathogenic Qi Ming
./. 1 02 c.142G>A r.(?) p.(Asp48Asn) Substitution g.5247980C>T (OMIM 0080);dbSNP;Chen SS et al.;Schiliro G et al.;Sick K et al.; HBB_000102 - Hb G-Copenhagen uncertain significance Qi Ming
./. 1 02 c.142G>T r.(?) p.(Asp48Tyr) Substitution g.5247980C>A (OMIM 0170);dbSNP;Marinucci M et al.;Moo-Penn WF et al.; HBB_000103 - Hb Maputo uncertain significance Qi Ming
./. 2 02 c.162delT r.(?) p.(Val55Leufs*7) Deletion g.5247960delA Chen et al. HBB_000104 - Codon 54 (-T), Dominant, Codon 54 (-T) Pathogenic Qi Ming
./. 2 02 c.165_177delTATGGGCAACCCT r.(?) p.(Met56Argfs*2) Deletion g.5247945_5247957delAGGGTTGCCCATA Chen et al., Huang et al HBB_000105 - Codons 55/59 (-TATGGGCAACCCT) Pathogenic Qi Ming
./. 1 02 c.167T>A r.(?) p.(Met56Lys) Substitution g.5247955A>T (OMIM 0173);dbSNP;Sciarratta GV et al.; HBB_000106 - Hb Matera uncertain significance Qi Ming
./. 1 02 c.170G>A r.(?) p.(Gly57Asp) Substitution g.5247952C>T (OMIM 0124);dbSNP;Chang JG et al.;Pootrakul S et al.;Clegg JB et al.; HBB_000107 - Hb J-Bangkok Uncertain significance Qi Ming
./. 1 02 c.179A>C r.(?) p.(Lys60Thr) Substitution g.5247943T>G (OMIM 0132);dbSNP;Blackwell RQ et al.;Blackwell RQ et al.; HBB_000108 - Hb J-Kaohsiung Pathogenic Qi Ming
./. 2 02 c.180G>C r.(?) p.(Lys60Asn) Substitution g.5247942C>G (OMIM 0134);dbSNP;Naritomi Y et al.;Sugihara J et al.;Chen SS et al.;Oshima Y et al., 1 more item HBB_000109 - Hb J-Lome Uncertain significance Qi Ming
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