IthaGenes

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Showing all entries with Thalassaemia dominant phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
94	CD 28 CTG>CGG [Leu >Arg]	Hb Chesterfield	HBB:c.86T>G	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70680
127	CD 32 CTG>CAG: CD 98 GTG>ATG	Hb Medicine Lake	HBB:c.[98T>A; 295G>A]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70822
131	CD 33-35 (-TGGTCT)	Hb Dresden	HBB:c.101_106delTGGTCT	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70825
170	CD 60 GTG>GAG [Val>Glu]	Hb Cagliari	HBB:c.182T>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70906
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
195	CD 93/94 (+TG)	Hb Agnana	HBB:c.282_283dupTG	β	Causative	β-chain variant, β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71006
229	CD 106 (CTG >GTG) Leu to Val (Hb Federico II)	Hb L'Aquila	HBB:c.319C>G	β	Causative	β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71893
230	CD 106 CTG>CGG [Leu>Arg]	Hb Terre Haute	HBB:c.320T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71894
233	CD 109 (-G) >156aa	Hb Manhattan	HBB:c.328delG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71902
234	CD 110 CTG>CCG [Leu>Pro]	Hb Showa-Yakushiji	HBB:c.332T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71906
238	CD 114 (-CT, +G) >156aa	Hb Geneva	HBB:c.343_344delinsG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71917
237	CD 114 CTG>CCG [Leu>Pro] (Hb Brescia)	Hb Durham-N.C.	HBB:c.344T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71918
239	CD 115 (GCC>GAC) Ala to Asp	Hb Hradec Kralove (HK)	HBB:c.347C>A	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71921
3308	CD 115-116 (-CC, +G) >156aa	Hb Grand Junction	HBB:c.348_349delinsG	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	71922
241	CD 118 (-T) > 156aa	Hb Sainte Seve	HBB:c.357delT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71931
245	CD 123 (-A) >156aa	Hb Makabe	HBB:c.370delA	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71944
250	CD 126 (-T) >156aa	Hb Vercelli	HBB:c.380delT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71954
256	CD 127/128 -AGG [Glu-Ala>Pro]	Hb Gunma	HBB:c.383_385delAGG	β	Causative	β-chain variant, β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71957
254	CD 127 CAG>CGG [Gln>Arg]	Hb Dieppe	HBB:c.383A>G	β	Causative	β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
253	CD 127 (CAG>CCG) Gln to Pro	Hb Houston	HBB:c.383A>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
264	CD 137-139 (-TGGCTA) Val-Ala-Asn to Asp	Hb Stara Zagora	HBB:c.413_418delTGGCTA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71987
265	CD 141 (-C) >156aa	Hb Florida	HBB:c.424delC	β	Causative	β-chain variant, β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71998
3980	CD 141 CTG>CCG [Leu>Pro]	Hb Yoshkar-Ola	HBB:c.425T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia	NG_000007.3	71999
2024	CD 143 (-C)	Hb Montreal II	HBB:c.430delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72004

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