IthaGenes

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Showing all entries with Sickling phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
822	CD 6 GAG>GTG [Glu>Val], CD 8 AAG>ACG [Lys>Thr]	Hb S-Clichy	HBB:c.[20A>T;26A>C]	β	Causative	β-chain variant	NG_000007.3	70614
3324	CD 6 GAG>GTG [Glu>Val]; CD 139 AAT>AGT [Asn>Ser]	Hb S-Wake	HBB:c.[20A>T;419A>G]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70614, 71993
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
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
824	CD 6 GAG>GTG [Glu>Val] (Sickle-cell)	HbS	HBB:c.20A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70614
823	CD 6 GAG>GTG; CD 90 GAG>AAG	Hb S-Cameroon	HBB:c.[20A>T;271G>A]	β	Causative	β-chain variant	NG_000007.3	70614
814	CD 6 GAG>GTG	Hb S-South End	HBB:c.[20A>T;399A>C]	β	Causative	β-chain variant	NG_000007.3	70614
821	CD 6 GAG>GTG; CD 121 GAA>AAA	Hb S-Oman	HBB:c.[20A>T;364G>A]	β	Causative	β-chain variant	NG_000007.3	70614
820	CD 6 GAG>GTG [Glu>Val]; CD 37 TGG>GGG [Trp>Gly]	Hb C-Ndjamena; Hb S-Northwick	HBB:c.[20A>T;112T>G]	β	Causative	β-chain variant	NG_000007.3	70614, 70836
819	CD 6 GAG>GTG; CD 142 GCC>GTC	Hb S-Travis	HBB:c.[20A>T;428C>T]	β	Causative	β-chain variant	NG_000007.3	70614
818	CD 6 GAG>GTG; CD 82AAG>AAT or AAC	Hb S-Providence	HBB:c.[20A>T;249G>C] \| HBB:c.[20A>T;249G>T]	β	Causative	β-chain variant	NG_000007.3	70614
817	CD 6 GAG>GTG; CD 73 GAT>AAT	Hb C-Harlem	HBB:c.[20A>T;220G>A]	β	Causative	β-chain variant	NG_000007.3	70614
816	CD 6 GAG>GTG; CD 58 CCT>CGT	Hb C-Ziguinchor	HBB:c.[20A>T;176C>G]	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
2379	CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro]	Hb S-San Martin	HBB:c.[20A>T ;317T>C]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71891

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