IthaGenes

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Showing all entries with α+/α0 phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
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
357	CD 30 -GAG [-Glu]	N/A	HBA2:c.91_93delGAG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33866
366	CD 31 AGG>AAG [Arg>Lys]	N/A	HBA2:c.95G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33870
367	CD 32 G>A	Hb Amsterdam	HBA2:c.99G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33991
369	CD 35 TCC>CCC [Ser>Pro]	Hb Evora	HBA2:c.106T>C	α2	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	33998
377	CD 59 GGC>GAC [Gly>Asp]	Hb Adana	HBA2:c.179G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34071
384	CD 66 CTG>CCG [Leu>Pro]	Hb Dartmouth	HBA2:c.190T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34082
391	IVS II-2 GT>GA donor	N/A	HBA2:c.300+2T>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34194
404	CD 113-116 (-12 bp) & CD 112 (C>G)	Hb Leida	HBA2:c.[339C>G;340_351delCTCCCCGCCGAG]	α2	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	34373
428	3'UTR -16 bp	N/A	HBA2:c.74_89delCCTTCCTGGTCTTTGA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34537
4111	Poly A (AATAAA>AAΑΑΑ)	N/A	HBA2:c.*91delT	α2	Causative	α-thalassaemia	NG_000006.1	34554
425	Poly A (AATAAA>AATGAA) (αPolyA2)	N/A	HBA2:c.*92A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34555
426	Poly A (AATAAA>AATA--)	N/A	HBA2:c.93_94delAA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34556
424	Poly A (AATAAA>AATAAG) (αPolyA1, αT-Saudi)	N/A	HBA2:c.*94A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34557
427	Poly A (AATAAA>AATAAC)	N/A	HBA2:c.*94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34557
370	CD 37 -CCC [-Pro)	Hb Heraklion	HBA1:c.112_114delCCC	α1	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	37808
380	CD 61 (-AAG)	Hb Clinic	HBA1:c.184_186del	α1	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	37880
390	CD 93-99 (+21 bp)	N/A	HBA1:c.280_300ins21	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37976

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