IthaGenes

Loading... Please wait!

Quick filtering

Showing all entries involving gene Gγ (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype
1534	Anglo-Saxon (εγδβ)0	N/A	NC_000011.8:g.5204501_5300223del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1535	Irish (εγδβ)0	N/A	NC_000011.8:g.5110112_5312961del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1536	Canadian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1537	Scottish - Irish	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1538	English I (εγδβ)0	N/A	N/A	βLCR, ε, Gγ	Causative	εγδβ-thalassaemia
1539	Mexican (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1541	Croatian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
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
1544	English III	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1545	English IV	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1546	Chilean	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1547	Dutch II	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1	Causative	εγδβ-thalassaemia
1548	Dutch III	N/A	N/A	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia
1549	Dutch IV	N/A	N/A	βLCR, ε, Aγ, Gγ, OR51B5, OR51B6	Causative	εγδβ-thalassaemia
1551	Dutch VI	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1552	Japanese	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
1553	French	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2158	Pakistani I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2159	(εγδβ)0 with α triplication	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
2163	Norwegian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia
2167	Asian Indian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
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
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
2550	African I duplication	N/A	NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A
2551	Austrian I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia
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
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
3270	Chinese I (εγδβ)0	N/A	NC_000011.9:g.5057966_5291566del	ε, Aγ, Gγ, δ, β, pseudo β, OR51V1	Causative	εγδβ-thalassaemia
3340	Brazilian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2	Causative	εγδβ-thalassaemia
2825	rs10128653	N/A	NG_000007.3:g.41385T>G	Gγ	Modifier	Hb F levels
2826	rs2855122	N/A	NG_000007.3:g.41610G>A	Gγ	Modifier	Hb F levels
2874	rs2855123	N/A	NG_000007.3:g.41768T>A	Gγ	Modifier	Hb F levels
1554	-567 T>G (Iranian non-deletional HPFH)	N/A	HBG2:c.-620T>G	Gγ	Causative	HPFH, Hb F levels
3272	-533 (-ATAAG)	N/A	HBG2:c.-533_-529delATAAG	Gγ	Causative	HPFH, Hb F levels
1555	-202 C>G (Black non-deletional HPFH)	N/A	HBG2:c.-255C>G	Gγ	Causative	HPFH, Hb F levels
1556	-200 +C (Tunisian non-deletional HPFH)	N/A	HBG2:c.-253_254insC	Gγ	Causative	HPFH, Hb F levels
2300	-197 C>T	N/A	HBG2:c.-250c>T	Gγ	Causative	HPFH, Hb F levels
1557	-196 C>T (Greek non-deletional HPFH)	N/A	HBG2:c.-249C>T	Gγ	Causative	HPFH, Hb F levels
1558	-175 T>C (Black/Sardinian/British non-deletional HPFH)	N/A	HBG2:c.-228T>C	Gγ	Causative	HPFH, Hb F levels
2127	-158 C>T (XmnI)	N/A	NG_000007.3:g.42677C>T	Gγ	Modifier	Hb F levels, Hb F response to hydroxyurea
2790	rs7482144	N/A	NG_000007.3:g.42677C>T	Gγ	Modifier	Hb F levels, F-cell numbers
1559	-114 C>G (Australian non-deletional HPFH)	N/A	HBG2:c.-167C>G	Gγ	Causative	HPFH, Hb F levels
1560	-114 C>A (Algerian non-deletional HPFH)	N/A	HBG2:c.-167C>A	Gγ	Causative	HPFH, Hb F levels
1561	-114 C>T (Japanese non-deletional HPFH)	N/A	HBG2:c.-167C>T	Gγ	Causative	HPFH, Hb F levels
1562	-110 A>C (Czech non-deletional HPFH)	N/A	HBG2:c.-163A>C	Gγ	Causative	HPFH, Hb F levels
1563	-109 G>T (Greek non-deletional HPFH)	N/A	HBG2:c.-162A>C	Gγ	Causative	HPFH, Hb F levels
1564	-37 A>T (Belgian non-deletional HPFH)	N/A	HBG2:c.-90A>T	Gγ	Causative	HPFH, Hb F levels
3162	rs1894397	N/A	NG_000007.3:g.42859G>A	Gγ	Modifier	Hb F levels
1406	CD 1 GGT>TGT	Hb F-Malaysia	HBG2:c.4G>T	Gγ	Causative	γ-chain variant
2449	CD 1 GGT>AGT [Gly>Ser]	Hb F-Montchat	HBG2:c.4G>A	Gγ	Causative	γ-chain variant
3319	CD 1 GGT>GAT [Gly>Asp]	Hb F-Hayward	HBG2:c.5G>A	Gγ	Causative	γ-chain variant
1407	CD 5 GAG>GGG	Hb F-Meinohama	HBG2:c.17A>G	Gγ	Causative	γ-chain variant
1409	CD 7 GAC>AAC	Hb F-Auckland	HBG2:c.22G>A	Gγ	Causative	γ-chain variant
1410	CD 8 AAG>CAG or GAG	Hb F-Albaicin	HBG2:c.25A>C \| HBG2:c.25A>G	Gγ	Causative	γ-chain variant
1412	CD 12 ACA>AGA [Thr>Arg]	Hb F-Heather	HBG2:c.38C>G	Gγ	Causative	γ-chain variant
1413	CD 15 TGG>CGG	Hb F-Catalonia	HBG2:c.46T>C	Gγ	Causative	γ-chain variant
1414	CD 16 GGC>CGC	Hb F-Melbourne	HBG2:c.49G>C	Gγ	Causative	γ-chain variant
1415	CD 17 AAG>AAC or AAT	Hb F-Clamart	HBG2:c.54G>C \| HBG2:c.54G>T	Gγ	Causative	γ-chain variant
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
1416	CD 19 AAT>AAA or AAG	Hb F-Ouled Rabah	HBG2:c.60T>A \| HBG2:c.60T>G	Gγ	Causative	γ-chain variant
1417	CD 20 GTG>GCG	Hb F-Bron	HBG2:c.62T>C	Gγ	Causative	γ-chain variant
1418	CD 21 GAA>AAA	Hb F-Saskatoon	HBG2:c.64G>A	Gγ	Causative	γ-chain variant
1419	CD 21 GAA>CAA	Hb F-Fuchu	HBG2:c.64G>C	Gγ	Causative	γ-chain variant
1420	CD 22 GAT>GTT	Hb F-Granada	HBG2:c.68A>T	Gγ	Causative	γ-chain variant
1421	CD 22 GAT>GGT	Hb F-Urumqi	HBG2:c.68A>G	Gγ	Causative	γ-chain variant
1422	CD 25 GGA>GAA	Hb F-Cosenza	HBG2:c.77G>A	Gγ	Causative	γ-chain variant
1423	CD 26 GAA>AAA	Hb F-Oakland	HBG2:c.79G>A	Gγ	Causative	γ-chain variant
3322	CD 28 CTG>ATG [Leu>Met]	Hb F-M Viseu	HBG2:c.85C>A	Gγ	Causative	γ-chain variant
1424	CD 34 GTC>ATC	Hb F-Tokyo	HBG2:c.103G>A	Gγ	Causative	γ-chain variant
2428	CD 37 TGG>GGG [Trp>Gly]	Hb F-Cobb II	HBG2:c.112T>G	Gγ	Causative	γ-chain variant
1425	CD 38 ACC>CCC	Hb F-Bonheiden	HBG2:c.115A>C	Gγ	Causative	γ-chain variant
1426	CD 40 AGG>GGG	Hb F-Veleta	HBG2:c.121A>G	Gγ	Causative	γ-chain variant
1427	CD 40 AGG>AAG	Hb F-Austell	HBG2:c.122G>A	Gγ	Causative	γ-chain variant
2427	CD 41 TTC>CTC [Phe>Leu]	Hb F-Avellino	HBG2:c.124T>C	Gγ	Causative	γ-chain variant, Hb F levels
1428	CD 41 TTC>TCC	Hb F-Cincinnati	HBG2:c.125T>C	Gγ	Causative	γ-chain variant
1429	CD 44 AGC>CGC	Hb F-Lodz	HBG2:c.133A>C	Gγ	Causative	γ-chain variant
1430	CD 55 ATG>AGG	Hb F-Kingston	HBG2:c.167T>G	Gγ	Causative	γ-chain variant
1431	CD 59 AAA>CAA	Hb F-Sacromonte	HBG2:c.178A>C	Gγ	Causative	γ-chain variant
1432	CD 59 AAA>GAA	Hb F-Emirates	HBG2:c.178A>G	Gγ	Causative	γ-chain variant
2552	CD 59 AAA>AGA [Lys>Arg]	Hb F-Augusta GA	HBG2:c.179A>G	Gγ	Causative	γ-chain variant
1433	CD 63 CAT>TAT	Hb F-M-Osaka	HBG2:c.190C>T	Gγ	Causative	γ-chain variant
2471	CD 64 GGC>GAC [Gly>Asp]	Hb F-Turritana	HBG2:c.194G>A	Gγ	Causative	γ-chain variant
1434	CD 65 AAG>AAT or AAC	Hb F-Clarke	HBG2:c.198G>C \| HBG2:c.198G>T	Gγ	Causative	γ-chain variant
1435	CD 66 AAG>CAG	Hb F-Brooklyn	HBG2:c.199A>C	Gγ	Causative	γ-chain variant
1436	CD 66 AAG>AGG	Hb F-Shanghai	HBG2:c.200A>G	Gγ	Causative	γ-chain variant
2435	CD 67 GTG>ATG [Val>Met]	Hb F-Heuried	HBG2:c.202G>A	Gγ	Causative	γ-chain variant
1437	CD 72 GGA>CGA	Hb F-Minoo	HBG2:c.217G>C	Gγ	Causative	γ-chain variant
1438	CD 73 GAT>GCT	Hb F-Joanopolis	HBG2:c.221A>C	Gγ	Causative	γ-chain variant
1439	CD 75 ATA>GTA	Hb F-Coigneres	HBG2:c.226A>G	Gγ	Causative	γ-chain variant
1440	CD 75 ATA>ACA	Hb F-Lesvos	HBG2:c.227T>C	Gγ	Causative	γ-chain variant
1441	CD 77 CAC>CGC	Hb F-Kennestone	HBG2:c.233A>G	Gγ	Causative	γ-chain variant
1442	CD 79 GAT>CAT [Asp>His]	Hb F-Saint-Etienne	HBG2:c.238G>C	Gγ	Causative	γ-chain variant
1443	CD 80 GAT>AAT	Hb F-Marietta	HBG2:c.241G>A	Gγ	Causative	γ-chain variant
1444	CD 80 GAT>TAT [Asp>Tyr]	Hb F-Paulinia	HBG2:c.241G>T	Gγ	Causative	γ-chain variant
1445	CD 92 CAC>TAC	Hb F-M-Fort Ripley	HBG2:c.277C>T	Gγ	Causative	γ-chain variant
2395	CD 93 TGT>CGT [Cys>Arg]	Hb F-Monserrato-Sassari	HBG2:c.280T>C	Gγ	Causative	γ-chain variant
1446	CD 94 GAC>AAC	Hb F-Columbus-GA	HBG2:c.283G>A	Gγ	Causative	γ-chain variant
1447	CD 97 CAT>CGT [His>Arg]	Hb F-Lyon	HBG2:c.293A>G	Gγ	Causative	γ-chain variant
1448	CD 101 GAG>CAG [Glu>Gln]	Hb F-Zheijang	HBG2:c.304G>C	Gγ	Causative	γ-chain variant
1449	CD 101 GAG>AAG	Hb F-La Grange	HBG2:c.304G>A	Gγ	Causative	γ-chain variant
1450	CD 102 AAC>ACC [Asn>Thr]	Hb F-Sarajevo	HBG2:c.308A>C	Gγ	Causative	γ-chain variant
1451	CD 104 AAG>AAC	Hb F-Macedonia-II	HBG2:c.315G>C	Gγ	Causative	γ-chain variant
2459	CD 105 CTC>CAC [Leu>His]	Hb F-Brugine/Feldkirch	HBG2:c.317T>A	Gγ	Causative	γ-chain variant
3161	rs11036475	N/A	NG_000007.3:g.43606C>T	Gγ	Modifier	Hb F levels
3160	rs11036474	N/A	NG_000007.3:g.43668A>G	Gγ	Modifier	Hb F levels
2804	rs2070972	N/A	NG_000007.3:g.44129T>G	Gγ	Modifier	Hb F levels
1453	CD 117 CAT>CGT	Hb F-Malta-I	HBG2:c.353A>G	Gγ	Causative	γ-chain variant
1454	CD 118 TTC>CTC	Hb F-Calabria	HBG2:c.355T>C	Gγ	Causative	γ-chain variant
1455	CD 120 AAA>CAA	Hb F-Caltech	HBG2:c.361A>C	Gγ	Causative	γ-chain variant
1456	CD 121 GAA>AAA	Hb F-Carlton	HBG2:c.364G>A	Gγ	Causative	γ-chain variant
1457	CD 125 GAG>GCG	Hb F-Port Royal	HBG2:c.377A>C	Gγ	Causative	γ-chain variant
1458	CD 130 TGG>GGG	Hb F-Poole	HBG2:c.391T>G	Gγ	Causative	γ-chain variant
2450	CD 136 GGA>GAA [Gly>Glu]	Hb F-Privas	HBG2:c.410G>A	Gγ	Causative	γ-chain variant
1459	CD 146 CAC>TAC	Hb F-Onoda	HBG2:c.439C>T	Gγ	Causative	γ-chain variant
2394	CD 146 CAC>CGC [His>Arg]	Hb F-Istambul	HBG2:c.440A>G	Gγ	Causative	γ-chain variant
3105	rs2255519	N/A	NG_000007.3:g.45305C>T	Gγ	Modifier	Hb F levels

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.