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Showing all entries with Thalassaemia phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2023	CD 117 TTC>TCC [Phe>Ser]	Hb Foggia	HBA2:c.353T>C	α2	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	34387
406	CD 119 CCT>TCT [Pro>Ser] (Hb Bernalda, Hb Bemalda P)	Hb Groene Hart	HBA1:c.358C>T	α1	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	38203
53	CD 2/3 (+T); CD 5 (-C)	Hb Antalya	HBB:c.[9dupT; 17delC]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70603, 70611
79	CD 19 AAC>AGC [Asn>Ser]	Hb Malay	HBB:c.59A>G	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70653
88	CD 26 GAG>AAG [Glu>Lys]	HbE	HBB:c.79G>A	β	Causative	β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70673
91	CD 27 GCC>TCC [Ala>Ser]	Hb Knossos	HBB:c.82G>T	β	Causative	β-chain variant, β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70676
100	CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr) (Hb Kairouan)	Hb Monroe	HBB:c.92G>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70686
1235	CD 126 GTG>GGG [Val>Gly] (Hb Neapolis)	Hb Dhonburi	HBB:c.380T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71954

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