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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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IthaGenes was last updated on 2024-12-12 10:33:52