IthaGenes

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Showing all entries with Decreased Oxygen Affinity phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2306	CD 1 GTG>CTG (Val>Leu)	Hb St. Josef	HBA2:c.4G>C	α2	Causative	α-chain variant	NG_000006.1	33779
433	CD 1 GTG>GAG [Val>Glu]	Hb Thionville	HBA1:c.5T>A \| HBA2:c.5T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33780, 37584
434	CD 1 GTG>GCG [Val>Ala]	Hb Lyon-Bron	HBA2:c.5T>C	α2	Causative	α-chain variant	NG_000006.1	33780
2955	CD 49-57 (-24bp): (-GCCACGGCTCTGCCCAGGTTAAGG)	Hb Goya	HBA2:c.149_172del	α2	Causative	α-chain variant	NG_000006.1	34041
570	CD 58 CAC>TAC [His>Tyr] (Hb M-Gothenburg, Hb M-Kiskunhalas, Hb M-Norin, Hb M-Osaka)	Hb M-Boston	HBA2:c.175C>T	α2	Causative	α-chain variant	NG_000006.1	34067
629	CD 80 CTG>GTG [Leu>Val]	Hb Conakry	HBA2:c.241C>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34133
643	CD 86 CTG>CGG [Leu>Arg]	Hb Moabit	HBA1:c.260T>G \| HBA2:c.260T>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34152, 37956
645	CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee, Hb M-Oldenburg, Hb M-Sendai)	Hb M-Iwate	HBA2:c.262C>T	α2	Causative	α-chain variant	NG_000006.1	34154
2311	CD 91 CTT>TTT [Leu>Phe]	Hb Treviso	HBA2: c.274C>T	α2	Causative	α-chain variant	NG_000006.1	34166
674	CD 94 GAC>AAC [Asp>Asn]	Hb Titusville	HBA2:c.283G>A	α2	Causative	α-chain variant	NG_000006.1	34175
675	CD 94 GAC>CAC [Asp>His]	Hb Sunshine Seth	HBA2:c.283G>C	α2	Causative	α-chain variant	NG_000006.1	34175
679	CD 94 GAC>GAG [Asp>Glu]	Hb Roanne	HBA1:c.285C>G \| HBA2:c.285C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34177, 37981
686	CD 96 GTC>GAC [Val>Asp]	Hb El Escorial	HBA2:c.290T>A	α2	Causative	α-chain variant	NG_000006.1	34182
750	CD 130 GCT>GAT [Ala>Asp]	Hb Yuda	HBA2:c.392C>A	α2	Causative	α-chain variant	NG_000006.1	34426
3175	CD 58 CAC>CTC [His>Leu]	Hb Kirklareli	HBA1:c.176A>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37872
2528	CD 64 GAC>AAC [Asp>Asn] (Hb Wädenswil, Hb Burgos)	Hb G-Waimanalo	HBA1:c.193G>A	α1	Causative	α-chain variant	NG_000006.1	37889
647	CD 87 CAC>GAC [His>Asp]	Hb Bonn	HBA1:c.262C>G	α1	Causative	α-chain variant	NG_000006.1	37958
2506	CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee , Hb M-Oldenburg , Hb M-Sendai)	Hb M-Iwate	HBA1:c.262C>T	α1	Causative	α-chain variant	NG_000006.1	37958
2507	CD 94 GAC>AAC [Asp>Asn]	Hb Titusville	HBA1:c.283G>A	α1	Causative	α-chain variant	NG_000006.1	37979
677	CD 94 GAC>GCC [Asp>Ala]	Hb Bassett	HBA1:c.284A>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37980
678	CD 94 GAC>GGC [Asp>Gly]	Hb Çapa	HBA1:c.284A>G	α1	Causative	α-chain variant	NG_000006.1	37980
763	CD 135 GTG>ATG [Val>Glu]	Hb Pavie	HBA1:c.407T>A \| HBA2:c.407T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	38252
2149	N/A (Hb Gγ-β Ulsan)	Hb Ulsan	NG_000007.3:g.42946_70654del	Aγ, Gγ, δ, β, pseudo β	Causative	β-chain variant	NG_000007.3	42946
2459	CD 105 CTC>CAC [Leu>His]	Hb F-Brugine/Feldkirch	HBG2:c.317T>A	Gγ	Causative	γ-chain variant	NG_000007.3	43326
791	CD 1 GTG>TTG	Hb Niigata	HBB:c.4G>T	β	Causative	β-chain variant	NG_000007.3	70598
793	CD 1 GTG>GCG	Hb Raleigh	HBB:c.5T>C	β	Causative	β-chain variant	NG_000007.3	70599
807	CD 5 CCT>CGT	Hb Warwickshire	HBB:c.17C>G	β	Causative	β-chain variant	NG_000007.3	70611
814	CD 6 GAG>GTG	Hb S-South End	HBB:c.[20A>T;399A>C]	β	Causative	β-chain variant	NG_000007.3	70614
815	CD 6 GAG>GTG; CD 23 GTT>ATT	Hb S-Antilles	HBB:c.[20A>T;70G>A]	β	Causative	β-chain variant	NG_000007.3	70614
825	CD 6 GAG>GTG; CD 68 CTC>TTC	Hb Jamaica Plain	HBB:c.[20A>T;205C>T]	β	Causative	β-chain variant	NG_000007.3	70614
2440	CD 6 GAG>GTG [Glu>Val] AND CD 65 AAG>GAG [Lys>Glu]	Hb S-Sao Paulo	HBB:c.[20A>T ;196A>G]	β	Causative	β-chain variant	NG_000007.3	70614, 70920
828	CD 7 (-GAG) [-Glu] (Hb Xinyi)	Hb Leiden	HBB:c.22_24delGAG	β	Causative	β-chain variant	NG_000007.3	70616
844	CD 11 GTT>TTT	Hb Washtenaw	HBB:c.34G>T	β	Causative	β-chain variant	NG_000007.3	70628
870	CD 21 GAT>GGT	Hb Connecticut	HBB:c.65A>G	β	Causative	β-chain variant	NG_000007.3	70659
886	CD 24 GGT>GAT [Gly>Asp]	Hb Moscva	HBB:c.74G>A	β	Causative	β-chain variant	NG_000007.3	70668
889	CD 25 GGT>GAT	Hb J-Auckland	HBB:c.77G>A	β	Causative	β-chain variant	NG_000007.3	70671
3306	CD 25/26 -GTG [-Gly] (Hb Higashitochigi, Hb HT)	Hb M Dothan	HBB:c.77_79delGTG	β	Causative	β-chain variant	NG_000007.3	70671
91	CD 27 GCC>TCC [Ala>Ser]	Hb Knossos	HBB:c.82G>T	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70676
910	CD 31 CTG>CCG	Hb Yokohama	HBB:c.95T>C	β	Causative	β-chain variant	NG_000007.3	70819
928	CD 37 TGG>AGG [Trp>Arg]	Hb Rothschild	HBB:c.112T>A	β	Causative	β-chain variant	NG_000007.3	70836
929	CD 37 TGG>GGG	Hb Howick	HBB:c.112T>G	β	Causative	β-chain variant	NG_000007.3	70836
932	CD 38 ACC>CCC	Hb Hazebrouck	HBB:c.115A>C	β	Causative	β-chain variant	NG_000007.3	70839
4112	CD 38 ACC>GCC [Thr>Ala]	Hb Oviedo	HBB:c.115A>G	β	Causative	β-chain variant	NG_000007.3	70839
2280	CD 38 ACC>AGC	N/A	HBB:c.116C>G	β	Causative	β-chain variant	NG_000007.3	70840
3004	CD 41 TTC>GTC [Phe>Val]	Hb Valme	HBB:c.124T>G	β	Causative	β-chain variant	NG_000007.3	70848
942	CD 41 TTC>TGC	Hb Ilmenau	HBB:c.125T>G	β	Causative	β-chain variant	NG_000007.3	70849
943	CD 41 TTC>TCC	Hb Denver	HBB:c.125T>C	β	Causative	β-chain variant	NG_000007.3	70849
945	CD 42 (-TTT)	Hb Bruxelles	HBB:c.127_129delTTT	β	Causative	β-chain variant	NG_000007.3	70851
947	CD 42 TTT>CTT [Phe>Leu]	Hb Louisville	HBB:c.127T>C	β	Causative	β-chain variant	NG_000007.3	70851
948	CD 42 TTT>GTT (Hb Warsaw)	Hb Sendagi	HBB:c.127T>G	β	Causative	β-chain variant	NG_000007.3	70851
949	CD 42 TTT>TCT [Phe>Ser]	Hb Hammersmith	HBB:c.128T>C	β	Causative	β-chain variant	NG_000007.3	70852
955	CD 45 TTT>TCT	Hb Cheverly	HBB:c.137T>C	β	Causative	β-chain variant	NG_000007.3	70861
957	CD 45 TTT>TGT	Hb Arta	HBB:c.137T>G	β	Causative	β-chain variant	NG_000007.3	70861
966	CD 48 CTG>CGG	Hb Okaloosa	HBB:c.146T>G	β	Causative	β-chain variant	NG_000007.3	70870
1004	CD 61 AAG>ATG	Hb Bologna	HBB:c.185A>T	β	Causative	β-chain variant	NG_000007.3	70909
1014	CD 65 AAG>CAG	Hb J-Cairo	HBB:c.196A>C	β	Causative	β-chain variant	NG_000007.3	70920
1018	CD 66 AAA>GAA	Hb I-Toulouse	HBB:c.199A>G	β	Causative	β-chain variant	NG_000007.3	70923
1019	CD 66 AAA>ACA	Hb Chico	HBB:c.200A>C	β	Causative	β-chain variant	NG_000007.3	70924
3367	CD 66 AAA>ATA [Lys>Ile]	Hb Vigo	HBB:c.200A>T	β	Causative	β-chain variant	NG_000007.3	70924
1020	CD 66 AAA>AAT	Hb Ulm	HBB:c.201A>T	β	Causative	β-chain variant	NG_000007.3	70925
1021	CD 67 GTG>ATG [Val>Met] (Hb Bristol-Alesha, Hb Bristol)	Hb Alesha	HBB:c.202G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70926
1024	CD 67 GTG>GAG	Hb M-Milwaukee-I	HBB:c.203T>A	β	Causative	β-chain variant	NG_000007.3	70927
1026	CD 68 CTC>TTC	Hb Loves Park	HBB:c.205C>T	β	Causative	β-chain variant	NG_000007.3	70929
1034	CD 70 GCC>GAC	Hb Seattle	HBB:c.212C>A	β	Causative	β-chain variant	NG_000007.3	70936
1035	CD 70 GCC>GGC [Ala>Gly]	Hb Hershey	HBB:c.212C>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70936
1039	CD 73 GAT>TAT	Hb Vancouver	HBB:c.220G>T	β	Causative	β-chain variant	NG_000007.3	70944
1040	CD 73 GAT>AAT (Hb Korle-Bu)	Hb G-Accra	HBB:c.220G>A	β	Causative	β-chain variant	NG_000007.3	70944
1041	CD 73 GAT>GGT	Hb Tilburg	HBB:c.221A>G	β	Causative	β-chain variant	NG_000007.3	70945
1042	CD 73 GAT>GTT	Hb Mobile	HBB:c.221A>T	β	Causative	β-chain variant	NG_000007.3	70945
1053	CD 76 GCT>CCT	Hb Calais	HBB:c.229G>C	β	Causative	β-chain variant	NG_000007.3	70953
3919	CD 79 GAC>GAA [Asp>Glu]	Hb Kalundborg	HBB:c.240C>A	β	Causative	β-chain variant	NG_000007.3	70964
1076	CD 82 AAG>AAC	Hb Providence	HBB:c.249G>C	β	Causative	β-chain variant	NG_000007.3	70973
1097	CD 90 GAG>AAG	Hb Agenogi	HBB:c.271G>A	β	Causative	β-chain variant	NG_000007.3	70995
1098	CD 90 GAG>GGG	Hb Roseau-Pointe a Pitre	HBB:c.272A>G	β	Causative	β-chain variant	NG_000007.3	70996
1102	CD 91 CTG>CGG	Hb Caribbean	HBB:c.275T>G	β	Causative	β-chain variant	NG_000007.3	70999
2441	CD 93 TGT>TGG [Cys>Trp]	Hb Santa Giusta Sardegna	HBB:c.282T>G	β	Causative	β-chain variant	NG_000007.3	71006
1150	CD 102 AAC>TAC	Hb Saint Mandé	HBB:c.307A>T	β	Causative	β-chain variant	NG_000007.3	71031
1151	CD 102 AAC>CAC [Asn>His]	Hb Canebiere	HBB:c.307A>C	β	Causative	β-chain variant	NG_000007.3	71031
1152	CD 102 AAC>AGC	Hb Beth Israel	HBB:c.308A>G	β	Causative	β-chain variant	NG_000007.3	71032
1153	CD 102 AAC>ACC [Asn>Thr] (Hb Reissmann)	Hb Kansas	HBB:c.308A>C	β	Causative	β-chain variant	NG_000007.3	71032
1168	CD 107 GGC>CGC	Hb Burke	HBB:c.322G>C	β	Causative	β-chain variant	NG_000007.3	71896
1170	CD 108 AAC>GAC	Hb Yoshizuka	HBB:c.325A>G	β	Causative	β-chain variant	NG_000007.3	71899
1172	CD 108 AAC>ATC	Hb Schlierbach	HBB:c.326A>T	β	Causative	β-chain variant	NG_000007.3	71900
1173	CD 108 AAC>AGC [Asn>Ser] (Hb Serres)	Hb Santa Juana	HBB:c.326A>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71900
1174	CD 108 AAC>AAA or AAG	Hb Presbyterian	HBB:c.327C>A \| HBB:c.327C>G	β	Causative	β-chain variant	NG_000007.3	71901
1180	CD 111 GTC>TTC [Val>Phe]	Hb Peterborough	HBB:c.334G>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71908
1181	CD 111 GTC>GCC [Val>Ala]	Hb Stanmore	HBB:c.335T>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71909
1187	CD 113 GTG>GAG [Val>Glu] (Hb Kaohsiung)	Hb New York	HBB:c.341T>A	β	Causative	β-chain variant	NG_000007.3	71915
1205	CD 117 CAC>CCC	Hb Saitama	HBB:c.353A>C	β	Causative	β-chain variant	NG_000007.3	71927
1245	CD 129 GCC>GTC [Ala>Val]	Hb La Desirade	HBB:c.389C>T	β	Causative	β-chain variant	NG_000007.3	71963
1266	CD 135 GCT>GAT [Ala>Asp]	Hb Beckman	HBB:c.407C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71981
1267	CD 135 GCT>GTT [Ala>Val]	Hb Alperton	HBB:c.407C>T	β	Causative	β-chain variant	NG_000007.3	71981
1272	CD 136 GGT>GAT	Hb Hope	HBB:c.410G>A	β	Causative	β-chain variant	NG_000007.3	71984
3034	CD 137 GTG>TGG [Val>Trp]	Hb Allentown	HBB:c.412_413delinsTG	β	Causative	β-chain variant	NG_000007.3	71986
1280	CD 139 AAT>ACT	Hb Sagami	HBB:c.419A>C	β	Causative	β-chain variant	NG_000007.3	71993
1281	CD 139 AAT>AAR [Asn>Lys]	Hb Hinsdale	HBB:c.420T>R	β	Causative	β-chain variant	NG_000007.3	71994

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