IthaGenes

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Showing all entries with Silent Hb phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3487	CD 15 GGT>GTT [Gly>Val]	Hb Liaoning	HBA2:c.47G>T	α2	Causative	α-chain variant	NG_000006.1	33822
2978	CD 17 GTC>GAC [Val>Asp]	Hb Oxford	HBA2:c.53T>A	α2	Causative	α-chain variant	NG_000006.1	33828
2979	CD 74 GAC>TAC [ Asp>Tyr]	Hb Uttoxeter	HBA2:c.223G>T	α2	Causative	α-chain variant	NG_000006.1	34115
3587	CD 92 CGG>GGG [Arg>Gly]	Hb Leeuwarden	HBA2:c.277C>G	α2	Causative	α-chain variant	NG_000006.1	34169
2304	CD 102 AGC>AAC (Ser>Asn)	Hb Enschede	HBA2:c.308G>A	α2	Causative	α-chain variant	NG_000006.1	34342
3482	CD 113 CTC>TTC [Leu>Phe]	Hb Pretoria	HBA2:c.340C>T	α2	Causative	α-chain variant	NG_000006.1	34374
3379	CD 139 AAA>CAA [Lys>Gln]	Hb Jilin	HBA2:c.418A>C	α2	Causative	α-chain variant	NG_000006.1	34452
2981	CD 139 AAA>AGA [Lys>Arg]	Hb Witham	HBA2:c.419A>G	α2	Causative	α-chain variant	NG_000006.1	34453
2386	CD 13 GCC>ACC [Ala>Thr]	Hb Olivet	HBA1:c.40G>A	α1	Causative	α-chain variant	NG_000006.1	37619
3000	CD 18 GGC>AGC [ Gly>Ser]	Hb King Ecgbert	HBA1:c.55G>A	α1	Causative	α-chain variant	NG_000006.1	37634
2983	CD 27 GAG>GAT [Glu>Asp]	Hb Hekinan II	HBA1:c.84G>T	α1	Causative	α-chain variant	NG_000006.1	37663
3624	CD 60 AAG>GAG [Lys>Glu]	Hb Liuzhou	HBA1:c.182A>G	α1	Causative	α-chain variant	NG_000006.1	37878
3788	CD 65 GCG>CCG [Ala>Pro]	Hb Maruchi	HBA1:c.196G>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37892
2303	CD 100 CTC>TTC (Leu>Phe)	Hb Weesp	HBA1:c.301C>T	α1	Causative	α-chain variant	NG_000006.1	38146
2985	CD 102 AGC>CGC [Ser>Arg]	Hb Manitoba IV	HBA1:c.307A>C	α1	Causative	α-chain variant	NG_000006.1	38152
2984	CD124 TCC>TGC [Ser>Cys]	Hb Harehills	HBA1:c.374C>G	α1	Causative	α-chain variant	NG_000006.1	38219
2299	CD 12 AAT>ACT (Asn>Thr)	Hb A2-Rotterdam	HBD:c.38A>C	δ	Causative	δ-chain variant	NG_000007.3	63220
3317	CD 47 GAT>AAT [Asp>Asn]	Hb A2-Lampang	HBD:c.142G>A	δ	Causative	δ-chain variant	NG_000007.3	63452
1371	CD 64 GGC>AGC (Gly>Ser) (Hb A2-Venlo)	Hb A2-Fogo	HBD:c.193G>A	δ	Causative	δ-chain variant	NG_000007.3	63503
2963	CD 7 GAG>GTG [Glu>Val]	Hb Haaglanden	HBB:c.23A>T	β	Causative	β-chain variant	NG_000007.3	70617
3005	CD 18 GTG>CTG [Val>Leu]	Hb Bhubaneswar	HBB:c.55G>C	β	Causative	β-chain variant	NG_000007.3	70649
876	CD 22 GAA>GCA (Hb G-Saskatoon, Hb G-Hsin Chu, Hb G-Taegu)	Hb G-Coushatta	HBB:c.68A>C	β	Causative	β-chain variant	NG_000007.3	70662
3035	CD 26 GAG>CAG [Glu>Gln]	Hb King's Mill	HBB:c.79G>C	β	Causative	β-chain variant	NG_000007.3	70673
3004	CD 41 TTC>GTC [Phe>Val]	Hb Valme	HBB:c.124T>G	β	Causative	β-chain variant	NG_000007.3	70848
2972	CD 41 TTC>TTA [Phe>Leu]	Hb Wilton	HBB:c.126C>A	β	Causative	β-chain variant	NG_000007.3	70850
2998	CD 59 AAG>CAG [ Lys>Gln]	Hb Hillsborought	HBB:c.178A>C	β	Causative	β-chain variant	NG_000007.3	70902
1030	CD 69 GGT>AGT	Hb City of Hope	HBB:c.208G>A	β	Causative	β-chain variant	NG_000007.3	70932
3392	CD 80 AAC>AGC [Asn>Ser]	Hb Moncloa	HBB:c.242A>G	β	Causative	β-chain variant	NG_000007.3	70966
1079	CD 83 GGC>GAC	Hb Pyrgos	HBB:c.251G>A	β	Causative	β-chain variant	NG_000007.3	70975
3009	CD 88 CTG>ATG [Leu>Met]	Hb NISER	HBB:c.265C>A	β	Causative	β-chain variant	NG_000007.3	70989
3001	CD 111 GTC>GGC [Val>Gly]	Hb Belluno	HBB:c.335T>G	β	Causative	β-chain variant	NG_000007.3	71909
2490	CD 119 GGC>AGC [Gly>Ser]	Hb Madison-NC	HBB:c.358G>A	β	Causative	β-chain variant	NG_000007.3	71932
2973	CD 120 AAA>AAT [Lys>Asn]	Hb Belsize Park	HBB:c.363A>T	β	Causative	β-chain variant	NG_000007.3	71937
2537	CD 135 GCT>ACT [Ala>Thr]	Hb Calvino	HBB:c.406G>A	β	Causative	β-chain variant	NG_000007.3	71980
2994	CD 139 AAT>CAT [Asn>His]	Hb Bermondsey	HBB:c.418A>C	β	Causative	β-chain variant	NG_000007.3	71992

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