IthaGenes

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Showing all entries involving gene Gγ (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2159	(εγδβ)0 with α triplication	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3
3570	1.78Mb εγδβ(0) del (Bedouin)	N/A	NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3578	2.2 Mb deletion	N/A	NC_000011.10:g.4052720_6253287del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
1534	Anglo-Saxon (εγδβ)0	N/A	NC_000011.8:g.5204501_5300223del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1535	Irish (εγδβ)0	N/A	NC_000011.8:g.5110112_5312961del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1536	Canadian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1537	Scottish - Irish	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1538	English I (εγδβ)0	N/A	N/A	βLCR, ε, Gγ	Causative	εγδβ-thalassaemia	NG_000007.3	0
1539	Mexican (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1541	Croatian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1542	Dutch I (εγδβ)0	N/A	NC_000011.8:g.5207238_5307069del99611	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3	0
1544	English III	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1545	English IV	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1546	Chilean	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1547	Dutch II	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1	Causative	εγδβ-thalassaemia	NG_000007.3	0
1548	Dutch III	N/A	N/A	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia	NG_000007.3	0
1549	Dutch IV	N/A	N/A	βLCR, ε, Aγ, Gγ, OR51B5, OR51B6	Causative	εγδβ-thalassaemia	NG_000007.3	0
1551	Dutch VI	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1552	Japanese	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1553	French	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2158	Pakistani I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2163	Norwegian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2167	Asian Indian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2418	Swiss (εγδβ)0	N/A	NC_000011.9:g.(4023964_4024014)_(6928943_6928993)del2904980	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3	0
2548	Inv-Del English V	N/A	NC_000011.10:g.5215690_5274684invdel5215690_5215772del5274684_5397195	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
2550	African I duplication	N/A	NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A	NG_000007.3	0
2551	Austrian I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3073	Italian (εγδβ)0 deletion	N/A	NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]	ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3112	African II duplication	N/A	NC_000011.9:g.5290168_5290169ins4640332_(5201300_5204930) ins(5237420_5243270)_5290168	ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A	NG_000007.3	0
3270	Chinese I (εγδβ)0	N/A	NC_000011.9:g.5057966_5291566del	ε, Aγ, Gγ, δ, β, pseudo β, OR51V1	Causative	εγδβ-thalassaemia	NG_000007.3	0
3340	Brazilian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3	0
3435	Gγ-Atlanta HPFH (Atlanta type of HPFH, Atlanta non-deletional HPFH)	N/A	N/A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	0
3436	Yugoslavian non-deletional HPFH	N/A	N/A	Aγ, Gγ	Causative	HPFH, Hb F levels	NG_000007.3	0
3577	59 Kb deletion	N/A	NC_000011.10:g.5236469_5295261del	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3	2355
2825	rs10128653	N/A	NG_000007.3:g.41385T>G	Gγ	Modifier	Hb F levels	NG_000007.3	41385
3411	rs2855121	N/A	NG_000007.3:g.41555G>A	Gγ	Modifier	Hb F levels	NG_000007.3	41555
2826	rs2855122	N/A	NG_000007.3:g.41610G>A	Gγ	Modifier	Hb F levels	NG_000007.3	41610
2874	rs2855123	N/A	NG_000007.3:g.41768T>A	Gγ	Modifier	Hb F levels	NG_000007.3	41768
1554	-567 T>G (Iranian non-deletional HPFH)	N/A	HBG2:c.-620T>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42268
3272	-533 (-ATAAG)	N/A	HBG2:c.-533_-529delATAAG	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42302
1555	-202 C>G (Black non-deletional HPFH)	N/A	HBG2:c.-255C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42633
1556	-200 +C (Tunisian non-deletional HPFH)	N/A	HBG2:c.-253_254insC	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42635
2300	-197 C>T	N/A	HBG2:c.-250c>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42638
1557	-196 C>T (Greek non-deletional HPFH)	N/A	HBG2:c.-249C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42639
1558	-175 T>C (Black/Sardinian/British non-deletional HPFH)	N/A	HBG2:c.-228T>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42660
2127	-158 C>T (XmnI)	N/A	NG_000007.3:g.42677C>T	Gγ	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_000007.3	42677
2790	rs7482144	N/A	NG_000007.3:g.42677C>T	Gγ	Modifier	Hb F levels, Pain, F-cell numbers, Anaemia	NG_000007.3	42677
1559	-114 C>G (Australian non-deletional HPFH)	N/A	HBG2:c.-167C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1560	-114 C>A (Algerian non-deletional HPFH)	N/A	HBG2:c.-167C>A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1561	-114 C>T (Japanese non-deletional HPFH)	N/A	HBG2:c.-167C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1562	-110 A>C (Czech non-deletional HPFH)	N/A	HBG2:c.-163A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42725
1563	-109 G>T (Greek non-deletional HPFH)	N/A	HBG2:c.-162A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42726
1564	-37 A>T (Belgian non-deletional HPFH)	N/A	HBG2:c.-90A>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42798
3162	rs1894397	N/A	NG_000007.3:g.42859G>A	Gγ	Modifier	Hb F levels	NG_000007.3	42859
1406	CD 1 GGT>TGT	Hb F-Malaysia	HBG2:c.4G>T	Gγ	Causative	γ-chain variant	NG_000007.3	42891
2449	CD 1 GGT>AGT [Gly>Ser]	Hb F-Montchat	HBG2:c.4G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42891
3319	CD 1 GGT>GAT [Gly>Asp]	Hb F-Hayward	HBG2:c.5G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42892
1407	CD 5 GAG>GGG	Hb F-Meinohama	HBG2:c.17A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42904
1409	CD 7 GAC>AAC	Hb F-Auckland	HBG2:c.22G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42909
1410	CD 8 AAG>CAG or GAG	Hb F-Albaicin	HBG2:c.25A>C \| HBG2:c.25A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42912
1412	CD 12 ACA>AGA [Thr>Arg]	Hb F-Heather	HBG2:c.38C>G	Gγ	Causative	γ-chain variant	NG_000007.3	42925
1413	CD 15 TGG>CGG	Hb F-Catalonia	HBG2:c.46T>C	Gγ	Causative	γ-chain variant	NG_000007.3	42933
1414	CD 16 GGC>CGC	Hb F-Melbourne	HBG2:c.49G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42936
1415	CD 17 AAG>AAC or AAT	Hb F-Clamart	HBG2:c.54G>C \| HBG2:c.54G>T	Gγ	Causative	γ-chain variant	NG_000007.3	42941
2149	N/A (Hb Gγ-β Ulsan)	Hb Ulsan	NG_000007.3:g.42946_70654del	Aγ, Gγ, δ, β, pseudo β	Causative	β-chain variant	NG_000007.3	42946
1416	CD 19 AAT>AAA or AAG	Hb F-Ouled Rabah	HBG2:c.60T>A \| HBG2:c.60T>G	Gγ	Causative	γ-chain variant	NG_000007.3	42947
1417	CD 20 GTG>GCG	Hb F-Bron	HBG2:c.62T>C	Gγ	Causative	γ-chain variant	NG_000007.3	42949
1418	CD 21 GAA>AAA	Hb F-Saskatoon	HBG2:c.64G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42951
1419	CD 21 GAA>CAA	Hb F-Fuchu	HBG2:c.64G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42951
1420	CD 22 GAT>GTT	Hb F-Granada	HBG2:c.68A>T	Gγ	Causative	γ-chain variant	NG_000007.3	42955
1421	CD 22 GAT>GGT	Hb F-Urumqi	HBG2:c.68A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42955
3566	CD 24 GGA>GAA [Gly>Glu]	Hb F-Wentzville	HBG2:c.74G>A	Gγ	Causative	γ-chain variant, Haemolytic anaemia	NG_000007.3	42961
1422	CD 25 GGA>GAA	Hb F-Cosenza	HBG2:c.77G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42964
1423	CD 26 GAA>AAA	Hb F-Oakland	HBG2:c.79G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42966
3322	CD 28 CTG>ATG [Leu>Met]	Hb F-M Viseu	HBG2:c.85C>A	Gγ	Causative	γ-chain variant	NG_000007.3	42972
1424	CD 34 GTC>ATC	Hb F-Tokyo	HBG2:c.103G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43112
2428	CD 37 TGG>GGG [Trp>Gly]	Hb F-Cobb II	HBG2:c.112T>G	Gγ	Causative	γ-chain variant	NG_000007.3	43121
1425	CD 38 ACC>CCC	Hb F-Bonheiden	HBG2:c.115A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43124
1426	CD 40 AGG>GGG	Hb F-Veleta	HBG2:c.121A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43130
1427	CD 40 AGG>AAG	Hb F-Austell	HBG2:c.122G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43131
2427	CD 41 TTC>CTC [Phe>Leu]	Hb F-Avellino	HBG2:c.124T>C	Gγ	Causative	γ-chain variant, Hb F levels	NG_000007.3	43133
1428	CD 41 TTC>TCC	Hb F-Cincinnati	HBG2:c.125T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43134
1429	CD 44 AGC>CGC	Hb F-Lodz	HBG2:c.133A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43142
1430	CD 55 ATG>AGG	Hb F-Kingston	HBG2:c.167T>G	Gγ	Causative	γ-chain variant	NG_000007.3	43176
1431	CD 59 AAA>CAA	Hb F-Sacromonte	HBG2:c.178A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43187
1432	CD 59 AAA>GAA	Hb F-Emirates	HBG2:c.178A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43187
2552	CD 59 AAA>AGA [Lys>Arg]	Hb F-Augusta GA	HBG2:c.179A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43188
1433	CD 63 CAT>TAT	Hb F-M-Osaka	HBG2:c.190C>T	Gγ	Causative	γ-chain variant	NG_000007.3	43199
3369	CD 63 CAT>CTT [His>Leu]	Hb F-Circleville	HBG2:c.191A>T	Gγ	Causative	γ-chain variant	NG_000007.3	43200
2471	CD 64 GGC>GAC [Gly>Asp]	Hb F-Turritana	HBG2:c.194G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43203
1434	CD 65 AAG>AAT or AAC	Hb F-Clarke	HBG2:c.198G>C \| HBG2:c.198G>T	Gγ	Causative	γ-chain variant	NG_000007.3	43207
1435	CD 66 AAG>CAG	Hb F-Brooklyn	HBG2:c.199A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43208
1436	CD 66 AAG>AGG	Hb F-Shanghai	HBG2:c.200A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43209
2435	CD 67 GTG>ATG [Val>Met]	Hb F-Heuried	HBG2:c.202G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43211
1437	CD 72 GGA>CGA	Hb F-Minoo	HBG2:c.217G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43226
1438	CD 73 GAT>GCT	Hb F-Joanopolis	HBG2:c.221A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43230
1439	CD 75 ATA>GTA	Hb F-Coigneres	HBG2:c.226A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43235
1440	CD 75 ATA>ACA	Hb F-Lesvos	HBG2:c.227T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43236
1441	CD 77 CAC>CGC	Hb F-Kennestone	HBG2:c.233A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43242
1442	CD 79 GAT>CAT [Asp>His]	Hb F-Saint-Etienne	HBG2:c.238G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43247
1443	CD 80 GAT>AAT	Hb F-Marietta	HBG2:c.241G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43250
1444	CD 80 GAT>TAT [Asp>Tyr]	Hb F-Paulinia	HBG2:c.241G>T	Gγ	Causative	γ-chain variant	NG_000007.3	43250
3389	CD 89 AGT>AAT [Ser>Asn]	Hb F-Careggi	HBG2:c.269G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43278
1445	CD 92 CAC>TAC	Hb F-M-Fort Ripley	HBG2:c.277C>T	Gγ	Causative	γ-chain variant	NG_000007.3	43286
2395	CD 93 TGT>CGT [Cys>Arg]	Hb F-Monserrato-Sassari	HBG2:c.280T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43289
1446	CD 94 GAC>AAC	Hb F-Columbus-GA	HBG2:c.283G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43292
1447	CD 97 CAT>CGT [His>Arg]	Hb F-Lyon	HBG2:c.293A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43302
1448	CD 101 GAG>CAG [Glu>Gln]	Hb F-Zheijang	HBG2:c.304G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1449	CD 101 GAG>AAG	Hb F-La Grange	HBG2:c.304G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1450	CD 102 AAC>ACC [Asn>Thr]	Hb F-Sarajevo	HBG2:c.308A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43317
1451	CD 104 AAG>AAC	Hb F-Macedonia-II	HBG2:c.315G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43324
2459	CD 105 CTC>CAC [Leu>His]	Hb F-Brugine/Feldkirch	HBG2:c.317T>A	Gγ	Causative	γ-chain variant	NG_000007.3	43326
3161	rs11036475	N/A	NG_000007.3:g.43606C>T	Gγ	Modifier	Hb F levels	NG_000007.3	43606
3160	rs11036474	N/A	NG_000007.3:g.43668A>G	Gγ	Modifier	Hb F levels	NG_000007.3	43668
2804	rs2070972	N/A	NG_000007.3:g.44129T>G	Gγ	Modifier	Hb F levels	NG_000007.3	44129
1453	CD 117 CAT>CGT	Hb F-Malta-I	HBG2:c.353A>G	Gγ	Causative	γ-chain variant	NG_000007.3	44248
1454	CD 118 TTC>CTC	Hb F-Calabria	HBG2:c.355T>C	Gγ	Causative	γ-chain variant	NG_000007.3	44250
1455	CD 120 AAA>CAA	Hb F-Caltech	HBG2:c.361A>C	Gγ	Causative	γ-chain variant	NG_000007.3	44256
1456	CD 121 GAA>AAA	Hb F-Carlton	HBG2:c.364G>A	Gγ	Causative	γ-chain variant	NG_000007.3	44259
1457	CD 125 GAG>GCG	Hb F-Port Royal	HBG2:c.377A>C	Gγ	Causative	γ-chain variant	NG_000007.3	44272
1458	CD 130 TGG>GGG	Hb F-Poole	HBG2:c.391T>G	Gγ	Causative	γ-chain variant	NG_000007.3	44286
2450	CD 136 GGA>GAA [Gly>Glu]	Hb F-Privas	HBG2:c.410G>A	Gγ	Causative	γ-chain variant	NG_000007.3	44305
1459	CD 146 CAC>TAC	Hb F-Onoda	HBG2:c.439C>T	Gγ	Causative	γ-chain variant	NG_000007.3	44334
2394	CD 146 CAC>CGC [His>Arg]	Hb F-Istambul	HBG2:c.440A>G	Gγ	Causative	γ-chain variant	NG_000007.3	44335
3105	rs2255519	N/A	NG_000007.3:g.45305C>T	Gγ	Modifier	Hb F levels	NG_000007.3	45305

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