IthaGenes

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Showing all Combinations (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3871	Unknown	N/A	N/A			,
3675	wild type	N/A	N/A			,
348	-α3.7;CD 14 TGG>CGG	Hb Evanston	N/A	α3.7 hybrid, α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1
400	-α3.7;CD 109 CTG>CGG	Hb Suan Dok	N/A	α3.7 hybrid, α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1
410	-α3.7;CD 125 CTG>CAG [Leu>Gln]	N/A	N/A	α1 or α2, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
3948	-α3.7αα (α triplication)	N/A	N/A	α2, α1, α3.7 hybrid	Modifier	α-thalassaemia	NG_000006.1
346	-α3.7;Init CD ACCATG>--CATG	N/A	NG_000006.1:g.[33773_33774del;34247_38050del]	α3.7 hybrid, α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33773, 34247
345	-α3.7;Init CD ATG>GTG	N/A	NG_000006.1:g.[33776A>G;34247_38050del]	α3.7 hybrid, α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33776, 34247
365	-α3.7;CD 31 AGG>--G	N/A	NG_000006.1:g.[33869_33870del;34247_38050del]	α3.7 hybrid, α2	Causative	α-thalassaemia	NG_000006.1	33869, 34247
3973	-α3.7;CD 68 AAC>AAR (-α3.7-Hb G-Philadelphia)	Hb G-Philadelphia	NG_000006.1:g.[34099C>R;34247_38050del]	α3.7 hybrid, α2	Causative	α-chain variant, α-thalassaemia	NG_000006.1	34099, 34247
3436	Yugoslavian non-deletional HPFH	N/A	N/A	Gγ, Aγ	Causative	HPFH, Hb F levels	NG_000007.3
3435	Gγ-Atlanta HPFH (Atlanta non-deletional HPFH, Atlanta type of HPFH)	N/A	N/A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3

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