IthaGenes

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Showing all entries with δ+ phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1321	-80 (G>A)	N/A	HBD:c.-130G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63053
1322	-77 T>C	N/A	HBD:c.-127T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63056
1324	-68 (C>T)	N/A	HBD:c.-118C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63065
1325	-65 (A>G)	N/A	HBD:c.-115A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63068
1326	-55 (T>C)	N/A	HBD:c.-105T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63078
3602	-44 G>A	N/A	HBD:c.-94G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63089
1327	-36 (C>A)	N/A	HBD:c.-86C>A	δ	Causative	δ-thalassaemia	NG_000007.3	63097
1328	-31 (A>G)	N/A	HBD:c.-81A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63102
1329	-30 T>C	N/A	HBD:c.-80T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63103
1331	CD 4 ACT>ATT [Thr>Ile] (HbA2-Mitsero)	N/A	HBD:c.14C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63196
2448	CD 14 CTG>CCG [Leu>Pro]	Hb A2-Saint-Etienne	HBD:c.44T>C	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	63226
3628	CD 15 TGG>CGG [Trp>Arg]	Hb A2-Utah	HBD:c.46T>C	δ	Causative	δ-chain variant	NG_000007.3	63228
2292	CD 19 AAC>AAA [Asn>Lys]	Hb Famagusta	HBD:c.60C>A	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	63242
1360	CD 25 GGT>GAT	Hb A2-Yokoshima	HBD:c.77G>A	δ	Causative	δ-chain variant	NG_000007.3	63259
1332	CD 27 GCC>TCC [Ala>Ser]	Hb A2-Yialousa	HBD:c.82G>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63264
2090	IVS I-5 G>T	N/A	HBD:c.92+5G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63279
3233	IVS I 3' AG>-C	N/A	HBD:c.93-2delA	δ	Causative	δ-thalassaemia	NG_000007.3	63401
3239	CD 42 TTT>CTT [Phe>Leu]	Hb A2-Huadu	HBD:c.127T>C	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	63437
3238	CD 44 TCC>TGC [Ser>Cys]	Hb A2-Conghua	HBD:c.134C>G	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	63444
2573	CD 67 GTG>ATG [Val>Met]	Hb A2-Deventer	HBD:c.202G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63512
1339	CD 98 (GTG>ATG)	Hb A2-Wrens	HBD:c.295G>A	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	63605
1342	IVS II-894 C>T	N/A	HBD:c.316-5C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64519
3234	CD 113 (+TG)	N/A	HBD:c.341_342dupTG	δ	Causative	δ-thalassaemia	NG_000007.3	64549
1384	CD 116 CGC>TGC [Arg>Cys]	Hb A2-Troodos	HBD:c.349C>T	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	64557
2574	CD 117 AAC>ACC [Asn>Thr]	Hb A2-Amsterdam	HBD:c.353A>C	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	64561
1392	CD 141 CTG>CCG	Hb A2-Pelendri	HBD:c.425T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64633
2560	CD 142 GCT>GTT [Ala>Val]	Hb A2-Episkopi	HBD:c.428C>T	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	64636

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