IthaGenes

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Showing all δ-thalassaemias (Show All):
Functionality:'Globin gene causative mutation'
Type of Hb:'3'

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1497	Corfu (δ)0 (7.2kb Corfu deletion)	N/A	NG_000007.3:g.57237_64443del7207	δ	Causative	δ-thalassaemia	NG_000007.3	57237
3601	-130 A>G	N/A	HBD:c.-180A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63003
3223	CAP +48 (A>T)	N/A	HBD:c.-6A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63019
2202	CAP +53 (G>A)	N/A	HBD:c.-1G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63024
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
1323	-76 (A>T)	N/A	HBD:c.-126A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63057
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
1330	Init CD ATG>ATA [Met>Ile]	N/A	HBD:c.3G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63185
1331	CD 4 ACT>ATT [Thr>Ile] (HbA2-Mitsero)	N/A	HBD:c.14C>T	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	63196
3617	CD 5 CCT>ACT [Pro>Thr]	Hb A2-Partinico	HBD:c.16C>A	δ	Causative	δ-thalassaemia	NG_000007.3	63198
3336	CD 7 GAG>TAG [Glu>STOP]	N/A	HBD:c.22G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63204
3231	CD 7 (-3bp): (-GAG)	N/A	HBD:c.22_24delGAG	δ	Causative	δ-thalassaemia	NG_000007.3	63204
3232	CD 10 GCT>-CT	N/A	HBD:c.31delG	δ	Causative	δ-thalassaemia	NG_000007.3	63213
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
4097	CD 17 AAA>CAA [Lys>Gln]	Hb A2-Laibin	HBD:c.52A>C	δ	Causative	δ-thalassaemia	NG_000007.3	63234
2292	CD 19 AAC>AAA [Asn>Lys]	Hb Famagusta	HBD:c.60C>A	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	63242
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
3960	CD 29 GGC>GGT [Gly>Gly]	N/A	HBD:c.90C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63272
1333	CD 30 (AGG>ACG)	N/A	HBD:c.92G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63274
3883	IVS I-1 G>C	N/A	HBD:c.92+1G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63275
1334	IVS I-2 (T>C)	N/A	HBD:c.92+2T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63276
2090	IVS I-5 G>T	N/A	HBD:c.92+5G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63279
2563	IVS I-1 (27 bp insertion)	N/A	HBD:c.92+83_84ins27	δ	Causative	δ-thalassaemia	NG_000007.3	63357
3233	IVS I 3' AG>-C	N/A	HBD:c.93-2delA	δ	Causative	δ-thalassaemia	NG_000007.3	63401
1335	IVS I-128 G>C (IVS I 3' AG>AC)	N/A	HBD:c.93-1G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63402
1336	CD 37 (TGG>TAG)	N/A	HBD:c.113G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63423
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
3806	CD 44-48 (-CTTTGGGGATC) (p.Phe46Valfs*4)	N/A	HBD:c.135_145del	δ	Causative	δ-thalassaemia	NG_000007.3	63445
4026	CD 46 GGG>CGG [Gly>Arg], IVS II-456 A>G	Hb A2-Malay	HBD:c.[139G>C;316-443A>G]	δ	Causative	δ-thalassaemia	NG_000007.3	63449, 64081
2575	CD 58 +C	N/A	HBD:c.176_177insC	δ	Causative	δ-thalassaemia	NG_000007.3	63486
3441	CD 59 AAG>A-G (δ0 59 (-A))	N/A	HBD:c.179delA	δ	Causative	δ-thalassaemia	NG_000007.3	63489
3237	CD 59/60 (+GG)	N/A	HBD:c.180_181dup	δ	Causative	δ-thalassaemia	NG_000007.3	63490
3870	CD 62 GCT>CCT [Ala>Pro]	N/A	HBD:c.187G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63497
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
2092	CD 82 AAG>TAG	N/A	NG_000007.3:g.63557A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63557
3844	CD 87 CAG>TAG [Gln>STOP]	N/A	HBD:c.262C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63572
3236	CD 87 CAG>C-G	N/A	HBD:c.263delA	δ	Causative	δ-thalassaemia	NG_000007.3	63573
1338	CD 91 (+T)	N/A	HBD:c.275dupT	δ	Causative	δ-thalassaemia	NG_000007.3	63585
3975	CD 98 (-GTG, +A)	N/A	HBD:c.295_297delGTGinsA	δ	Causative	δ-thalassaemia	NG_000007.3	63605
1339	CD 98 (GTG>ATG)	Hb A2-Wrens	HBD:c.295G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63605
1340	IVS II-1 G>A	N/A	HBD:c.315+1G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63626
1341	IVS II-6 (T>A)	N/A	HBD:c.315+6T>A	δ	Causative	δ-thalassaemia	NG_000007.3	63631
1342	IVS II-894 C>T	N/A	HBD:c.316-5C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64519
2473	IVS II-897 A>G	N/A	HBD:c.316-2A>G	δ	Causative	δ-thalassaemia	NG_000007.3	64522
1343	IVS II-897 A>C	N/A	HBD:c.316-2A>C	δ	Causative	δ-thalassaemia	NG_000007.3	64522
2521	CD 110-111 +GT	N/A	HBD:c.333_334insGT	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64541
3234	CD 113 (+TG)	N/A	HBD:c.341_342dupTG	δ	Causative	δ-thalassaemia	NG_000007.3	64549
3230	CD 115 GCC>GTC [Ala>Val]	N/A	HBD:c.347C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64555
3229	CD 116 CGC>GGC [Arg>Gly]	N/A	HBD:c.349C>G	δ	Causative	δ-thalassaemia	NG_000007.3	64557
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
3842	CD134 GTG>GAG [Val>Glu]	N/A	HBD:c.404T>A	δ	Causative	δ-thalassaemia	NG_000007.3	64612
1392	CD 141 CTG>CCG	Hb A2-Pelendri	HBD:c.425T>C	δ	Causative	δ-chain variant, δ-thalassaemia	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
3269	CD 147 TGA>CGA [Stop>Arg]	N/A	HBD:c.442T>C	δ	Causative	δ-thalassaemia	NG_000007.3	64650
2520	CD 147 TGA>TTA	N/A	HBD:c.443G>T	δ	Causative	δ-chain variant, δ-thalassaemia	NG_000007.3	64651
4033	Poly A +69 (G>T)	N/A	HBD:c.*199G>T	δ	Causative	δ-thalassaemia	NG_000007.3	64851
1346	Poly A +69 (G>A)	N/A	HBD:c.*199G>A	δ	Causative	δ-thalassaemia	NG_000007.3	64851

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