IthaGenes

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Showing all entries with Unclear phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3595	--CR	Hb Chiang Rai	NC_000016.10:g.144215_188843del	HBM, α1, α2, ζ	Causative	α-thalassaemia	NG_000006.1	5078
2312	CD 71 GCG>ACG [Ala>Thr]	Hb Hatfield	HBA1:c.214G>A \| HBA2:c.214G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34106, 37910
3767	CD 30 GAG>AAG [Glu>Lys]	Hb O-Padova	HBA1:c.91G>A	α1	Causative	α-chain variant	NG_000006.1	37670
3431	IVS I-38 C>T	N/A	HBA1:c.95+38C>T	α1	Causative	α-thalassaemia	NG_000006.1	37712
3759	CD 74 GAC>AAC [Asp>Asn]	Hb G-Pest	HBA1:c.223G>A	α1	Causative	α-chain variant	NG_000006.1	37919
3760	CD 75 GAC>AAC [Asp>Asn]	Hb Matsue-Oki	HBA1:c.226G>A	α1	Causative	α-chain variant	NG_000006.1	37922
2092	CD 82 AAG>TAG	N/A	NG_000007.3:g.63557A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63557
1341	IVS II-6 (T>A)	N/A	HBD:c.315+6T>A	δ	Causative	δ-thalassaemia	NG_000007.3	63631
1346	Poly A +69 (G>A)	N/A	HBD:c.*199G>A	δ	Causative	δ-thalassaemia	NG_000007.3	64851
3077	-83 G>A	N/A	HBB:c.-133G>A	β	Causative	β-thalassaemia	NG_000007.3	70462
16	-56 G>C	N/A	HBB:c.-106G>C	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70489
17	-50 G>A	N/A	HBB:c.-100G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70495
3062	-30 (-T)	N/A	HBB:c.-80delT	β	Causative	β-thalassaemia	NG_000007.3	70515
31	-27 (-AA)	N/A	HBB:c.-77_-76delAA	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70518
76	CD 16 GGC>GGT [Gly>Gly]	N/A	HBB:c.51C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70645
3066	IVS I-108 T>C	N/A	HBB:c.93-23T>C	β	Causative	β-thalassaemia	NG_000007.3	70794
2173	IVS I-109 (-T)	N/A	HBB:c.93-22delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70795
3008	IVS I-115 (A>T)	N/A	HBB:c.93-16A>T	β	Causative	β-thalassaemia	NG_000007.3	70801
3594	CD 43 (GAG>TAG);CD 71/72 (+A)	N/A	HBB:c.[130G>T;217dupA]	β	Causative	β-thalassaemia	NG_000007.3	70854, 70941
2407	CD 49-55 (-19 bp +4 bp)	Hb Martinez	HBB:c.149_167delinsAGCT	β	Causative	β-chain variant, β-thalassaemia	NG_000007.3	70873
3589	CD 62-65 (-12bp)	N/A	HBB:c.187_198delGCTCATGGCAAG	β	Causative	β-thalassaemia, Haemolytic anaemia	NG_000007.3	70911
2182	IVS II-2 -TGAGTCTATGGG	N/A	HBB:c.315+2_315+13delTGAGTCTATGGG	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71041
210	IVS II-613 (C>T)	N/A	HBB:c.316-238C>T	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71652
215	IVS II-761 A>G	N/A	HBB:c.316-90A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71800
2183	IVS II-781 C>G	N/A	HBB:c.316-70C>G	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71820
216	IVS II-815 (C>T)	N/A	HBB:c.316-36C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71854
217	IVS II-837 (T>G)	N/A	HBB:c.316-14T>G	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71876
2191	CD 107-111 (-12 bp): (-GCAACGTGCTGG)	N/A	HBB:c.323_334del	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71897
2196	CD 130 TAT>TAA [Tyr>STOP]	N/A	HBB:c.393T>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71967
259	CD 131/132 (+GCCT)	N/A	HBB:c.396_397insGCCT	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71970

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