IthaGenes

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Showing all entries with GγAγ(δβ)0 phenotype (Show All):
Functionality:'Globin gene causative mutation'
Allele Phenotype:'GγAγ(δβ)0'

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2497	49.98 kb (δβ)0 Indian del (HPFH-9)	N/A	NC_000011.10:g.5194285_5244267del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
1515	Turkish (δβ)0 (Turkish type 3 (δβ)0)	N/A	N/A	β, δ, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1514	Macedonian/Turkish (δβ)0 (Turkish type 2 (δβ)0 \| Turkish Inv/Del (δβ)0)	N/A	N/A	β, δ	Causative	δβ-thalassaemia	NG_000007.3	0
1516	Leiden 7.4 kb (δβ)0	N/A	NG_000007.3:g.(59658_64667)_(72019_81668)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1511	East European (δβ)0	N/A	NG_000007.3:g.61566_70708del	β, δ	Causative	δβ-thalassaemia	NG_000007.3	0
1517	Thai 11.3 (δβ)0	N/A	NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG	δ, β	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	0
1518	Japanese 2 (δβ)0	N/A	NG_000007.3:g.52036_78987del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1502	Italian 1 (HPFH-4)	N/A	N/A	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1503	Italian 2, Sicilian (HPFH-5)	N/A	NC_000011.10:g.59893_72818del	β, δ	Causative	HPFH, Hb F levels	NG_000007.3	0
1506	Indian (δβ)0 (32.6 kb GγΑγ(δβ)0 Indian del)	N/A	NC_000011.10:g.5214461_5247124del	pseudo β, β, δ	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	50492
1508	Japanese (δβ)0	N/A	NC_000011.10:g.5132468_5246133del	δ, pseudo β, β	Causative	δβ-thalassaemia	NG_000007.3	51483
1501	Indian HPFH-3	N/A	NC_000011.10:g.5194459_5244226del	pseudo β, β, δ	Causative	HPFH, Hb F levels	NG_000007.3	53390
1500	Ghanaian (HPFH-2)	N/A	NC_000011.10:g.5158438_5242749del	pseudo β, β, δ	Causative	HPFH, Hb F levels	NG_000007.3	54867
3971	Tunisian (δβ)0	N/A	NG_000007.3:g.58253_72837del	β, δ	Causative	δβ-thalassaemia	NG_000007.3	58253
1499	Black (HPFH-1)	N/A	NC_000011.10:g.5153222_5238138delinsAAATA	β, δ	Causative	HPFH, Hb F levels	NG_000007.3	59478
1509	Spanish (δβ)0	N/A	NG_000011.10:g.5144331_5237241del	β, δ	Causative	δβ-thalassaemia	NG_000007.3	60375
1510	Black (δβ)0	N/A	NG_000007.3:g.(60530_60730)_(72351_72551)del11822	β, δ	Causative	δβ-thalassaemia	NG_000007.3	60530
4139	Thai δβ0-thal (137.1 kb del) (NG_000007.3:g.63611_200762del)	N/A	NC_000011.10:g.5096853_5234005del	δ, β, OR51V1, OR52A1	Causative	δβ-thalassaemia	NG_000007.3	63611
1512	Laotian (δβ)0 (Thai (δβ)0-thal)	N/A	NG_000007.3:g.(64336_64524)_76866del	β, δ	Causative	δβ-thalassaemia	NG_000007.3	64336
1507	Sicilian (δβ)0	N/A	NG_000007.3:g.64336_77738del	β, δ	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64336
1513	Thai/Vietnamese (δβ)0 (Vietnamese (δβ)0 , Thai (δβ)0 )	N/A	NG_000007.3:g.64384_76993del	β, δ	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64384
3867	>6.5 Kb deletion	N/A	NG_000007.3:g.(63032_64585)_(71150_72080)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64585

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