IthaGenes

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Showing all δ-chain variants (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1404	(Hb Anti-Lepore Hong Kong)	Hb Hong Kong	NG_000007.3:g.63160_70572dup	δ, β	Causative	δ-chain variant	NG_000007.3
1405	(Hb Anti-Lepore P-Nilotic)	Hb P-Nilotic	NG_000007.3:g.63461_70874dup	δ, β	Causative	δ-chain variant	NG_000007.3
2378	CD 6 GAG>CAG [Glu>Gln]	Hb A2-Ramallah	HBD:c.19G>C	δ	Causative	δ-chain variant	NG_000007.3	0
4096	Hb Anti-Lepore Laibin	Hb Anti-Lepore Laibin	NG_000007.3:g.63100_70511dup	δ, β	Causative	δ-chain variant	NG_000007.3	63100
3964	Hb Anti-Lepore Liuzhou	N/A	NG_000007.3:g.63154_70565dup	δ, β	Causative	δ-chain variant	NG_000007.3	63154
1347	CD 1 GTG>GCG	Hb A2-Niigata	HBD:c.5T>C	δ	Causative	δ-chain variant	NG_000007.3	63187
2328	CD 2 CAT>AAT [His>Asn]	Hb A2-Calderdale	HBD:c.7C>A	δ	Causative	δ-chain variant	NG_000007.3	63189
1348	CD 2 CAT>CTT	Hb A2-Catania	HBD:c.8A>T	δ	Causative	δ-chain variant	NG_000007.3	63190
1349	CD 2 CAT>CGT	Hb A2-Sphakiá	HBD:c.8A>G	δ	Causative	δ-chain variant	NG_000007.3	63190
3366	CD 3 CTG>CCG [Leu>Pro]	Hb A2-Sile	HBD:c.11T>C	δ	Causative	δ-chain variant	NG_000007.3	63193
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
1350	CD 4 ACT>AGT [Thr>Ser]	Hb A2-Acacias	HBD:c.14C>G	δ	Causative	δ-chain variant	NG_000007.3	63196
4035	CD 7 GAG>AAG [Glu>Lys]	Hb A2-Zhengzhou	HBD:c.22G>A	δ	Causative	δ-chain variant	NG_000007.3	63204
1351	CD 7 GAG>GCG [Glu>Ala]	Hb A2-Udine	HBD:c.23A>C	δ	Causative	δ-chain variant	NG_000007.3	63205
2325	CD 7 GAG>GAC [Glu>Asp]	Hb A2-Pordenone	HBD:c.24G>C	δ	Causative	δ-chain variant	NG_000007.3	63206
1352	CD 8 AAG>GAG [Lys>Glu]	Hb A2-Toranomon	HBD:c.25A>G	δ	Causative	δ-chain variant	NG_000007.3	63207
4030	CD 8 AAG>AAC [Lys>Asn]	Hb A2-Hengyang	HBD:c.27G>C	δ	Causative	δ-chain variant	NG_000007.3	63209
3243	CD 10 GCT>CCT [Ala>Pro]	Hb A2-Guangzhou	HBD:c.31G>C	δ	Causative	δ-chain variant	NG_000007.3	63213
3496	CD 10 GCT>GTT [Ala>Val]	Hb A2-Canakkale	HBD:c.32C>T	δ	Causative	δ-chain variant	NG_000007.3	63214
1353	CD 11 GTC>GGC	Hb A2-Pylos	HBD:c.35T>G	δ	Causative	δ-chain variant	NG_000007.3	63217
2299	CD 12 AAT>ACT (Asn>Thr)	Hb A2-Rotterdam	HBD:c.38A>C	δ	Causative	δ-chain variant	NG_000007.3	63220
1354	CD 12 AAT>AAA [Asn>Lys]	Hb A2-NYU	HBD:c.39T>A	δ	Causative	δ-chain variant	NG_000007.3	63221
1355	CD 13 GCC>GAC [Ala>Asp] (Hb A2-Corleone)	Hb A2-MUMC	HBD:c.41C>A	δ	Causative	δ-chain variant	NG_000007.3	63223
2448	CD 14 CTG>CCG [Leu>Pro]	Hb A2-Saint-Etienne	HBD:c.44T>C	δ	Causative	δ-thalassaemia, δ-chain variant	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
3372	CD 15 TGG>TTG [Trp>Leu]	Hb A2-Stockholm	HBD:c.47G>T	δ	Causative	δ-chain variant	NG_000007.3	63229
1356	CD 16 GGC>CGC	Hb A2' or Hb B2	HBD:c.49G>C	δ	Causative	δ-chain variant	NG_000007.3	63231
3242	CD 17 AAA>ACA [Lys>Thr]	Hb A2-Qingyuan	HBD:c.53A>C	δ	Causative	δ-chain variant	NG_000007.3	63235
4039	CD 18 GTG>GGG [Val>Gly]	Hb A2-Siping	HBD:c.56T>G	δ	Causative	δ-chain variant	NG_000007.3	63238
2292	CD 19 AAC>AAA [Asn>Lys]	Hb Famagusta	HBD:c.60C>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63242
1357	CD 20 GTG>GAG	Hb A2-Roosevelt	HBD:c.62T>A	δ	Causative	δ-chain variant	NG_000007.3	63244
3241	CD 21 GAT>GGT [Asp>Gly]	Hb A2-Dongguan	HBD:c.65A>G	δ	Causative	δ-chain variant	NG_000007.3	63247
1396	(δβδ hybrid)	Hb Parchman	NG_000007.3:g.[63249_70661del;63571_70985dup]	δ, β	Causative	δ-chain variant	NG_000007.3	63249
2447	CD 22 GCA>ACA>AAA [Ala>Lys]	Hb A2-Marseille	HBD:c.[67G>A; 68C>A]	δ	Causative	δ-chain variant	NG_000007.3	63249
1358	CD 22 GCA>GAA [Ala>Glu]	Hb A2-Flatbush	HBD:c.68C>A	δ	Causative	δ-chain variant	NG_000007.3	63250
1359	CD 24 GGT>GAT	Hb A2-Victoria	HBD:c.74G>A	δ	Causative	δ-chain variant	NG_000007.3	63256
1360	CD 25 GGT>GAT	Hb A2-Yokoshima	HBD:c.77G>A	δ	Causative	δ-chain variant	NG_000007.3	63259
1361	CD 26 GAG>GAC	Hb A2-Puglia	HBD:c.81G>C	δ	Causative	δ-chain variant	NG_000007.3	63263
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
3240	CD 28 CTG>CCG [Leu>Pro]	Hb A2-Hunan	HBD:c.86T>C	δ	Causative	δ-chain variant	NG_000007.3	63268
2437	CD 29 GGC>GAC [Gly>Asp]	Hb A2-Hong Kong	HBD:c.89G>A	δ	Causative	δ-chain variant	NG_000007.3	63271
1363	CD 36 CCT>CAT	Hb A2-Metaponto	HBD:c.110C>A	δ	Causative	δ-chain variant	NG_000007.3	63420
3387	CD 36 CCT>CGT [Pro>Arg]	Hb A2-Sanremo	HBD:c.110C>G	δ	Causative	δ-chain variant	NG_000007.3	63420
4029	CD 39 CAG>AAG [Gln>Lys]	Hb A2-Chengdu	HBD:c.118C>A	δ	Causative	δ-chain variant	NG_000007.3	63428
2320	CD 39 CAG>CAC [Gln>His]	Hb A2-Lyon	HBD:c.120G>C	δ	Causative	δ-chain variant	NG_000007.3	63430
4037	CD 40 AGG>AGT [Arg>Ser]	Hb A2-Wuhan	HBD:c.123G>T	δ	Causative	δ-chain variant	NG_000007.3	63433
3239	CD 42 TTT>CTT [Phe>Leu]	Hb A2-Huadu	HBD:c.127T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63437
1364	CD 43 GAG>AAG	Hb A2-Melbourne	HBD:c.130G>A	δ	Causative	δ-chain variant	NG_000007.3	63440
1365	CD 43 GAG>GGG	Hb A2-Agrinio	HBD:c.131A>G	δ	Causative	δ-chain variant	NG_000007.3	63441
3238	CD 44 TCC>TGC [Ser>Cys]	Hb A2-Conghua	HBD:c.134C>G	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63444
4069	CD 46 GGG>AGG [Gly>Arg]	Hb A2-Yulin	HBD:c.139G>A	δ	Causative	δ-chain variant	NG_000007.3	63449
2425	CD 46 GGG>GAG [Gly>Glu]	Hb A2-Tunis	HBD:c.140G>A	δ	Causative	δ-chain variant	NG_000007.3	63450
3317	CD 47 GAT>AAT [Asp>Asn]	Hb A2-Lampang	HBD:c.142G>A	δ	Causative	δ-chain variant	NG_000007.3	63452
1366	CD 47 GAT>GTT	Hb A2-Parkville	HBD:c.143A>T	δ	Causative	δ-chain variant	NG_000007.3	63453
2426	CD 50 TCT>ACT [Ser>Thr]	Hb A2-Konz	HBD:c.151T>A	δ	Causative	δ-chain variant	NG_000007.3	63461
1367	CD 51 CCT>CGT	Hb A2-Adria	HBD:c.155C>G	δ	Causative	δ-chain variant	NG_000007.3	63465
2329	CD 52 GAT>CAT [Asp>His]	Hb A2-Walsgrave	HBD:c.157G>C	δ	Causative	δ-chain variant	NG_000007.3	63467
3316	CD 53 GCT>CCT [Ala>Pro]	Hb A2-Edirne	HBD:c.160G>C	δ	Causative	δ-chain variant	NG_000007.3	63470
3315	CD 56 GGC>GAC [Gly>Asp]	Hb A2-Shah Alam	HBD:c.170G>A	δ	Causative	δ-chain variant	NG_000007.3	63480
1368	CD 57 AAC>AAA	Hb A2-Campania	HBD:c.174C>A	δ	Causative	δ-chain variant	NG_000007.3	63484
1369	CD 59 AAG>ATG [Lys>Met]	Hb A2-North Africa	HBD:c.179A>T	δ	Causative	δ-chain variant	NG_000007.3	63489
1370	CD 59 AAG>AAC	Hb A2-Pasteur-Tunis	HBD:c.180G>C	δ	Causative	δ-chain variant	NG_000007.3	63490
1371	CD 64 GGC>AGC (Gly>Ser) (Hb A2-Venlo)	Hb A2-Fogo	HBD:c.193G>A	δ	Causative	δ-chain variant	NG_000007.3	63503
4036	CD 65 AAG>ATG [Lys>Met]	Hb A2-Zhaoqing	HBD:c.197A>G	δ	Causative	δ-chain variant	NG_000007.3	63507
3495	CD 65 AAG>AAT [Lys>Asn]	Hb A2-Yunnan	HBD:c.198G>T	δ	Causative	δ-chain variant	NG_000007.3	63508
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
1372	CD 69 GGT>CGT	Hb A2-Indonesia	HBD:c.208G>C	δ	Causative	δ-chain variant	NG_000007.3	63518
3406	CD 69 GGT>GAT [Gly>Asp]	Hb A2-Gebenstorf	HBD:c.209G>A	δ	Causative	δ-chain variant	NG_000007.3	63519
1373	CD 70 GCC>GGC [Ala>Gly] (Cubstitution of Ala with Gly at helical position E14, which is in contact with heme.)	Hb A2-Ventimiglia	HBD:c.212C>G	δ	Causative	δ-chain variant	NG_000007.3	63522
3335	CD 73 GAT>GTT [Asp>Val]	Hb A2-Henan	HBD:c.221A>T	δ	Causative	δ-chain variant	NG_000007.3	63531
2324	CD 74 GGC>GAC [Gly>Asp]	Hb A2-Asti	HBD:c.224G>A	δ	Causative	δ-chain variant	NG_000007.3	63534
1374	CD 75 CTG>GTG	Hb A2-Grovetown	HBD:c.226C>G	δ	Causative	δ-chain variant	NG_000007.3	63536
4092	CD 76 GCT>GAT [Ala>Asp]	Hb A2-Moyen-Orient	HBD:c.230C>A	δ	Causative	δ-chain variant	NG_000007.3	63540
3256	CD 77 CAC>CGC [His>Arg]	Hb A2-Kiriwong	HBD:c.233A>G	δ	Causative	δ-chain variant	NG_000007.3	63543
4091	CD 79 GAC>AAC [Asp>Asn]	Hb A2-Guangxi	HBD:c.238G>A	δ	Causative	δ-chain variant	NG_000007.3	63548
2477	CD 79 GAC>GGC [Asp>Gly]	Hb A2-Turkish	HBD:c.239A>G	δ	Causative	δ-chain variant	NG_000007.3	63549
4032	CD 80 AAC>AAA [Asn>Lys]	Hb A2-Lishui	HBD:c.243C>A	δ	Causative	δ-chain variant	NG_000007.3	63552
2309	CD 81 CTC>TTC [Leu>Phe] (Hb A2-Saint-Denis)	Hb A2-St. George's	HBD:c.244C>T	δ	Causative	δ-chain variant	NG_000007.3	63554
3992	CD 82 AAG>AAT [Lys>Asn]; CD133 GTG>ATG [Val>Met]	Hb A2-Roi-Et	HBD:c.[249G>T;400G>A]	δ	Causative	δ-chain variant	NG_000007.3	63559, 64608
1375	CD 83 GGC>GAC [Gly>Asp]	Hb A2-Nishishinbashi	HBD:c.251G>A	δ	Causative	δ-chain variant	NG_000007.3	63561
1376	CD 85 TTT>TCT	Hb A2-Etolia	HBD:c.257T>C	δ	Causative	δ-chain variant	NG_000007.3	63567
1377	CD 87 CAG>AAG	Hb A2-Montechiaro	HBD:c.262C>A	δ	Causative	δ-chain variant	NG_000007.3	63572
4016	CD 87 CAG>CGG [Gln>Arg]	Hb A2-Cremona	HBD:c.263A>G	δ	Causative	δ-chain variant	NG_000007.3	63573
1378	CD 88 CTG>GTG	Hb A2-Lucania	HBD:c.265C>G	δ	Causative	δ-chain variant	NG_000007.3	63575
3547	CD 89 AGT>AAT [Ser>Asn]	Hb A2-Pistoia	HBD:c.269G>A	δ	Causative	δ-chain variant	NG_000007.3	63579
2476	CD 90 GAG>AAG [Glu>Lys]	Hb A2-Canebière	HBD:c.271G>A	δ	Causative	δ-chain variant	NG_000007.3	63581
1379	CD 90 GAG>GTG [Glu>Val]	Hb A2-Honai	HBD:c.272A>T	δ	Causative	δ-chain variant	NG_000007.3	63582
2354	CD 90 GAG>GGG [Glu>Gly]	Hb A2-India	HBD:c.272A>G	δ	Causative	δ-chain variant	NG_000007.3	63582
3383	CD 91 CTG>CCG [Leu>Pro]	Hb A2-Courbevoie	HBD:c.275T>C	δ	Causative	δ-chain variant	NG_000007.3	63585
1380	CD 93 TGT>GGT	Hb A2-Sant' Antioco	HBD:c.280T>G	δ	Causative	δ-chain variant	NG_000007.3	63590
4013	CD 93 TGT>TGG [Cys>Trp]	Hb A2-Pontedera	HBD:c.282T>G	δ	Causative	δ-chain variant	NG_000007.3	63592
4031	CD 96 CTG>CGG [Leu>Arg]	Hb A2-Hubei	HBD:C.290T>G	δ	Causative	δ-chain variant	NG_000007.3	63600
3222	CD 97 CAC>CGC [His>Arg]	Hb A2-Merchang	HBD:c.293A>G	δ	Causative	δ-chain variant	NG_000007.3	63603
1339	CD 98 (GTG>ATG)	Hb A2-Wrens	HBD:c.295G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63605
1382	CD 99 GAT>AAT	Hb A2-Canada	HBD:c.298G>A	δ	Causative	δ-chain variant	NG_000007.3	63608
4038	CD 99 GAT>GGT [Asp>Gly]	Hb A2-Wanxian	HBD:c.299A>G	δ	Causative	δ-chain variant	NG_000007.3	63609
3003	CD 100 CCT>TCT [Pro>Ser]	Hb A2-Saurashtra	HBD:c.301C>T	δ	Causative	δ-chain variant	NG_000007.3	63611
3002	CD 104 AGG>AAG [Arg>Lys]	Hb Chori-Burnaby	HBD:c.314G>A	δ	Causative	δ-chain variant	NG_000007.3	63624
1383	CD 104 AGG>AGT	Hb A2-Capri	HBD:c.315G>T	δ	Causative	δ-chain variant	NG_000007.3	63625
1403	(Hb Anti-Lepore P-India)	Hb P-India	NG_000007.3:g.63632_71046dup	δ, β	Causative	δ-chain variant	NG_000007.3	63632
2201	CD 107 G>A [Gly>Asp]	Hb A2-Tianhe	HBD:c.323G>A	δ	Causative	δ-chain variant	NG_000007.3	64531
3235	CD 108 AAT>GAT [Asn>Asp]	Hb A2-Meizhou	HBD:c.325A>G	δ	Causative	δ-chain variant	NG_000007.3	64533
2521	CD 110-111 +GT	N/A	HBD:c.333_334insGT	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64541
1384	CD 116 CGC>TGC [Arg>Cys]	Hb A2-Troodos	HBD:c.349C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64557
1402	(Hb Anti-Lepore P-Congo)	Hb P-Congo	NG_000007.3:g.64557_71923dup	δ, β	Causative	δ-chain variant	NG_000007.3	64557
1385	CD 116 CGC>CAC [Arg>His]	Hb A2-Coburg	HBD:c.350G>A	δ	Causative	δ-chain variant	NG_000007.3	64558
3314	CD 116 CGC>CCC [Arg>Pro]	Hb A2-Bornova	HBD:c.350G>C	δ	Causative	δ-chain variant	NG_000007.3	64558
3318	CD 116 CGC>CTC [Arg>Leu] (Hb A2-India)	Hb A2-Lepore	HBD:c.350G>T	δ	Causative	δ-chain variant	NG_000007.3	64558
1386	CD 117 AAC>GAC	Hb A2-Liangcheng	HBD:c.352A>G	δ	Causative	δ-chain variant	NG_000007.3	64560
2574	CD 117 AAC>ACC [Asn>Thr]	Hb A2-Amsterdam	HBD:c.353A>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64561
2363	CD 119 GGC>GAC [Gly>Asp]	Hb A2-Lewisburg	HBD:c.359G>A	δ	Causative	δ-chain variant	NG_000007.3	64567
3843	CD 120 AAG>ACG [Lys>Thr]	Hb A2-Liangqing	HBD:c.362A>C	δ	Causative	δ-chain variant	NG_000007.3	64570
3058	CD 121 GAA>AAA [Glu>Lys]	Hb A2-Fengshun	HBD:c.364G>A	δ	Causative	δ-chain variant	NG_000007.3	64572
1387	CD 121 GAA>GTA	Hb A2-Manzanares	HBD:c.365A>T	δ	Causative	δ-chain variant	NG_000007.3	64573
4012	CD 123 ACC>GCC [Thr>Ala]	Hb A2-Kuching	HBD:c.370A>G	δ	Causative	δ-chain variant	NG_000007.3	64578
1388	CD 125 CAA>GAA	Hb A2-Zagreb	HBD:c.376C>G	δ	Causative	δ-chain variant	NG_000007.3	64584
4034	CD 125 CAA>CGA [Gln>Arg]	Hb A2-Tongchuan	HBD:c.377A>G	δ	Causative	δ-chain variant	NG_000007.3	64585
3546	CD 130 TAT>-AT	Hb A2-Gaslini 1	HBD:c.391delT	δ	Causative	δ-chain variant	NG_000007.3	64599
3490	CD 131 CAG>GAG [Gln>Glu]	Hb A2-Puer	HBD:c.394C>G	δ	Causative	δ-chain variant	NG_000007.3	64602
1389	CD 133 GTG>GCG	Hb A2-Ninive	HBD:c.401T>C	δ	Causative	δ-chain variant	NG_000007.3	64609
1390	CD 136 GGT>GAT [Gly>Asp]	Hb A2-Babinga	HBD:c.410G>A	δ	Causative	δ-chain variant	NG_000007.3	64618
2482	CD 137 -GTG [-Val] (Hb Anti-Lepore Lincoln Park)	Hb Lincoln Park	HBD:c.412_414delGTG	δ	Causative	δ-chain variant, Haemolytic anaemia	NG_000007.3	64620
1391	CD 140 GCC>GTC	Hb A2-Bagheria	HBD:c.422C>T	δ	Causative	δ-chain variant	NG_000007.3	64630
1392	CD 141 CTG>CCG	Hb A2-Pelendri	HBD:c.425T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64633
2524	CD 142 GCT>CCT [Ala>Pro]	N/A	HBD:c.427C>A	δ	Causative	δ-chain variant	NG_000007.3	64635
1393	CD 142 GCT>GAT [Ala>Asp]	Hb A2-Fitzroy	HBD:c.428C>A	δ	Causative	δ-chain variant	NG_000007.3	64636
2560	CD 142 GCT>GTT [Ala>Val]	Hb A2-Episkopi	HBD:c.428C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64636
2392	CD 143 CAC>TAC [His>Tyr]	Hb Noah Mehmet Oeztuerk	HBD:c.430C>T	δ	Causative	δ-chain variant	NG_000007.3	64638
2421	CD 143 CAC>GAC [His>Asp]	Hb A2-Leuven	HBD:c.430C>G	δ	Causative	δ-chain variant	NG_000007.3	64638
2989	CD 143 CAC>CGC [His>Arg] (Hb A2-Abruzzo)	Hb A2-Leuven II	HBD:c.431A>G	δ	Causative	δ-chain variant	NG_000007.3	64639
3376	CD 144 AAG>GAG [Lys>Glu]	Hb A2-Angola	HBD:c.433A>G	δ	Causative	δ-chain variant	NG_000007.3	64641
2349	CD 144 AAG>ACG [Lys>Thr]	Hb A2-San Floro	HBD:c.434A>C	δ	Causative	δ-chain variant	NG_000007.3	64642
1394	CD 146 CAT>CGT	Hb A2-Monreale	HBD:c.440A>G	δ	Causative	δ-chain variant	NG_000007.3	64648
2520	CD 147 TGA>TTA	N/A	HBD:c.443G>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64651

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