The ATP7B gene codes for a protein with eight transmembrane domains that form a channel through cell membranes for Cu translocation. So far, more than 400 mutations have been described in the ATP7B gene, giving rise to Wilson Disease.
The ATP7B gene codes for a protein with eight transmembrane domains that form a channel through cell membranes for Cu translocation. So far, more than 400 mutations have been described in the ATP7B gene, giving rise to Wilson Disease.
Variant Name | Country | Genomic Location | Clinvar Clinical Significance | CTGA Clinical Significance | Condition(s) | HGVS Expressions | dbSNP | Clinvar |
---|---|---|---|---|---|---|---|---|
NM_000053.3:c.1186G>T | Egypt | NC_000013.11:g.51974034C>A | Pathogenic | Wilson Disease | NG_008806.1:g.42461G>T; NM_000053.3:c.1186G>T; NP_000044.2:p.Glu396Ter | 201874048 | ||
NM_000053.3:c.1216T>G | Lebanon; Oman | NC_000013.11:g.51974004A>C | Benign, Likely Benign, Uncertain Significance | Likely Benign | NG_008806.1:g.42491T>G; NM_000053.3:c.1216T>G; NP_000044.2:p.Ser406Ala | 1801243 | 35701 | |
NM_000053.3:c.1366G>C | Oman | NC_000013.11:g.51970669C>G | Benign | Likely Benign | NG_008806.1:g.45826G>C; NM_000053.3:c.1366G>C; NP_000044.2:p.Val456Leu | 1801244 | 35702 | |
NM_000053.3:c.1544-53A>C | Oman | NC_000013.11:g.51968660T>G | Likely Benign | NG_008806.1:g.47835A>C; NM_000053.3:c.1544-53A>C; NP_000044.2:p.? | 2147363 | |||
NM_000053.3:c.1646T>C | Egypt | NC_000013.11:g.51968505A>G | Pathogenic | Wilson Disease | NG_008806.1:g.47990T>C; NM_000053.3:c.1646T>C ; NP_000044.2:p.Leu549Pro | |||
NM_000053.3:c.1707+5G>A | Egypt | NC_000013.11:g.51968439C>T | Pathogenic | NG_008806.1:g.48056G>A; NM_000053.3:c.1707+5G>A; NP_000044.2:p.? | ||||
NM_000053.3:c.1772G>A | Egypt | NC_000013.11:g.51964969C>T | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.51526G>A; NM_000053.3:c.1772G>A; NP_000044.2:p.Gly591Asp | 797045402 | 210482 |
NM_000053.3:c.1924G>C | Egypt | NC_000013.11:g.51961859C>G | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.54636G>C; NM_000053.3:c.1924G>C ; NP_000044.2:p.Asp642His | 72552285 | 189109 |
NM_000053.3:c.2049_2053delCCTTGGinsTTTC | Egypt | Chr13:51960216_51960220 | Pathogenic | NG_008806.1:g.56275_56279 ; NM_000053.3:c.2049_2053delCCTTGGinsTTTC; NP_000044.2:p.Val683_Leu684delinVal | ||||
NM_000053.3:c.2071G>A | Lebanon | NC_000013.11:g.51960198C>T | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.56297G>A; NM_000053.3:c.2071G>A; NP_000044.2:p.Gly691Arg | 121908001 | 3866 |
NM_000053.3:c.2108G>A | Egypt | NC_000013.11:g.51960161C>T | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.56334G>A; NM_000053.3:c.2108G>A; NP_000044.2:p.Cys703Tyr | 767218895 | 1177269 |
NM_000053.3:c.2231T>C | Egypt | Chr13:51958431 | NG_008806.1:g.58060T>C ; NM_000053.3:c.2231T>C; NP_000044.2:p.Ser744Pro | |||||
NM_000053.3:c.2293G>A | Egypt | NC_000013.11:g.51958373C>T | Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.58122G>A; NM_000053.3:c.2293G>A ; NP_000044.2:p.Asp765Asn | 28942075 | 3855 |
NM_000053.3:c.2332C>G | Egypt | NC_000013.11:g.51958334G>C | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.58161C>G; NM_000053.3:c.2332C>G; NP_000044.2:p.Arg778Gly | 137853284 | 156283 |
NM_000053.3:c.2448-25G>A | Oman | NC_000013.11:g.51950424C>T | Benign | Benign | NG_008806.1:g.66071G>A; NM_000053.3:c.2448-25G>A; NP_000044.2:p.? | 9526811 | 254764 | |
NM_000053.3:c.2450delA | Egypt | NC_000013.11:g.51950397del | Pathogenic | Wilson Disease | NG_008806.1:g.66098del; NM_000053.3:c.2450delA; NP_000044.2:p.Glu817GlyfsTer56 | |||
NM_000053.3:c.2495A>G | Lebanon; Oman | NC_000013.11:g.51950352T>C | Benign, Uncertain Significance | Benign, Likely Benign | NG_008806.1:g.66143A>G; NM_000053.3:c.2495A>G; NP_000044.2:p.Lys832Arg | 1061472 | 35707 | |
NM_000053.3:c.2532delA | Egypt; Lebanon | NC_000013.11:g.51950317del | Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.66180del; NM_000053.3:c.2532delA; NP_000044.2:p.Val845SerfsTer28 | 755709270 | 188883 |
NM_000053.3:c.2634T>A/G | Egypt | Chr13:51950104 | Pathogenic | Wilson Disease | NG_008806.1:g.66397A>G; NM_000053.3:c.2634T>A/G; NP_000044.2:p.p.Asn878Lys | |||
NM_000053.3:c.2817G>T | Lebanon | NC_000013.11:g.51949710C>A | Likely Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.66785G>T; NM_000053.3:c.2817G>T; NP_000044.2:p.Trp939Cys | 1057517310 | 371483 |
NM_000053.3:c.2855G>A | Lebanon; Oman | NC_000013.11:g.51949672C>T | Benign, Uncertain Significance | Benign, Likely Benign | NG_008806.1:g.66823G>A; NM_000053.3:c.2855G>A; NP_000044.2:p.Arg952Lys | 732774 | 35708 | |
NM_000053.3:c.2866-2A>G | Oman | NC_000013.11:g.51946480T>C | Likely Pathogenic | NG_008806.1:g.70015A>G; NM_000053.3:c.2866-2A>G; NP_000044.2:p.? | 1377418826 | |||
NM_000053.3:c.2866-90G>T | Oman | NC_000013.11:g.51946568C>A | Benign | Likely Benign | NG_008806.1:g.69927G>T; NM_000053.3:c.2866-90G>T; NP_000044.2:p.? | 2296246 | 676104 | |
NM_000053.3:c.2930C>T | Egypt | NC_000013.11:g.51946414G>A | Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.70081C>T; NM_000053.3:c.2930C>T; NP_000044.2:p.Thr977Met | 72552255 | 35710 |
NM_000053.3:c.2993G>A | Egypt | NC_000013.11:g.51946351C>T | Pathogenic | Wilson Disease | NG_008806.1:g.70144G>A; NM_000053.3:c.2993G>A ; NP_000044.2:p.Gly998Asp | |||
NM_000053.3:c.2997insC | Egypt | Chr13:51946347 | Pathogenic | Wilson Disease | NG_008806.1:g.70148insC ; NM_000053.3:c.2997insC ; NP_000044.2:p.Gly1000fs | |||
NM_000053.3:c.3009G>A | Lebanon | NC_000013.11:g.51946335C>T | Benign | Benign | NG_008806.1:g.70160G>A; NM_000053.3:c.3009G>A; NP_000044.2:p.Ala1003= | 1801247 | 35714 | |
NM_000053.3:c.3045G>A | Oman | NC_000013.11:g.51946299C>T | Benign, Uncertain Significance | Likely Benign | NG_008806.1:g.70196G>A; NM_000053.3:c.3045G>A; NP_000044.2:p.Leu1015= | 1801248 | 35716 | |
NM_000053.3:c.3188C>T | Egypt | NC_000013.11:g.51944164G>A | Benign, Likely Pathogenic, Pathogenic, Uncertain Significance | Pathogenic | NG_008806.1:g.72331C>T; NM_000053.3:c.3188C>T; NP_000044.2:p.Ala1063Val | 587783309 | 157945 | |
NM_000053.3:c.3207C>A | Egypt | NC_000013.11:g.51944145G>T | Pathogenic | Pathogenic | NG_008806.1:g.72350C>A; NM_000053.3:c.3207C>A; NP_000044.2:p.His1069Gln | 76151636 | 3848 | |
NM_000053.3:c.3207C>T | Egypt | NC_000013.11:g.51944145G>A | Pathogenic | Wilson Disease | NG_008806.1:g.72350C>T; NM_000053.3:c.3207C>T; NP_000044.2:p.His1069= | 76151636 | ||
NM_000053.3:c.330delA | Egypt | NC_000013.11:g.51974891del | Pathogenic | Wilson Disease | NG_008806.1:g.41605del; NM_000053.3:c.330delA; NP_000044.2:p.Gln110HisfsTer43 | |||
NM_000053.3:c.3373_3377delATAinsTCT | Egypt | Chr13:51942421_51942425 | Pathogenic | Wilson Disease | NG_008806.1:g.74070_74074delATAinsTCT ; NM_000053.3:c.3373_3377delATAinsTCT; NP_000044.2:p.His1126fs | |||
NM_000053.3:c.3419T>C | Lebanon; Oman | NC_000013.11:g.51941218A>G | Benign, Uncertain Significance | Benign, Likely Benign | NG_008806.1:g.75277T>C; NM_000053.3:c.3419T>C; NP_000044.2:p.Val1140Ala | 1801249 | 35720 | |
NM_000053.3:c.3443T>C | Egypt | NC_000013.11:g.51941194A>G | Likely Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.75301T>C; NM_000053.3:c.3443T>C ; NP_000044.2:p.Ile1148Thr | 60431989 | 37122 |
NM_000053.3:c.3620A>G | Egypt | NC_000013.11:g.51939130T>C | Benign, Likely Benign | Likely Pathogenic | NG_008806.1:g.77365A>G; NM_000053.3:c.3620A>G ; NP_000044.2:p.His1207Arg | 7334118 | 35724 | |
NM_000053.3:c.3659C>T | Egypt | NC_000013.11:g.51939091G>A | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.77404C>T; NM_000053.3:c.3659C>T; NP_000044.2:p.Thr1220Met | 193922107 | 35725 |
NM_000053.3:c.3683G>C | Egypt; Lebanon | NC_000013.11:g.51939067C>G | Pathogenic | Wilson Disease | NG_008806.1:g.77428G>C; NM_000053.3:c.3683G>C; NP_000044.2:p.Arg1228Thr | |||
NM_000053.3:c.3734G>T | Egypt | Chr13:51937645 | Pathogenic | Wilson Disease | NG_008806.1:g.78850G>T ; NM_000053.3:c.3734G>T ; NP_000044.2:p.Pro1245Leu | |||
NM_000053.3:c.3809A>G | Egypt; Lebanon | NC_000013.11:g.51937570T>C | Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.78925A>G; NM_000053.3:c.3809A>G; NP_000044.2:p.Asn1270Ser | 121907990 | 3859 |
NM_000053.3:c.3818C>T | Egypt; Lebanon | NC_000013.11:g.51937561G>A | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.78934C>T; NM_000053.3:c.3818C>T; NP_000044.2:p.Pro1273Leu | 758355520 | 189139 |
NM_000053.3:c.3903+6C>T | Oman | NC_000013.11:g.51937470G>A | Benign | Likely Benign | NG_008806.1:g.79025C>T; NM_000053.3:c.3903+6C>T; NP_000044.2:p.? | 2282057 | 35727 | |
NM_000053.3:c.3904-2A>G | Egypt | NC_000013.11:g.51937395T>C | Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.79100A>G; NM_000053.3:c.3904-2A>G; NP_000044.2:p.? | 1057517233 | 371387 |
NM_000053.3:c.3955C>T | Egypt; Lebanon | NC_000013.11:g.51937342G>A | Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.79153C>T; NM_000053.3:c.3955C>T; NP_000044.2:p.Arg1319Ter | 193922109 | 35728 |
NM_000053.3:c.3994A>G | Egypt | NC_000013.11:g.51937303T>C | Pathogenic | Wilson Disease | NG_008806.1:g.79192A>G; NM_000053.3:c.3994A>G; NP_000044.2:p.Asn1332Asp | |||
NM_000053.3:c.4021G>A | Saudi Arabia | NC_000013.11:g.51937276C>T | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.79219G>A; NM_000053.3:c.4021G>A; NP_000044.2:p.Gly1341Ser | 587783317 | 157955 |
NM_000053.3:c.4021G>C | Egypt | NC_000013.11:g.51937276C>G | Pathogenic | Wilson Disease | NG_008806.1:g.79219G>C; NM_000053.3:c.4021G>C; NP_000044.2:p.Gly1341Arg | 587783317 | ||
NM_000053.3:c.4022G>A | Egypt | NC_000013.11:g.51935695C>T | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.80800G>A; NM_000053.3:c.4022G>A ; NP_000044.2:p.Gly1341Asp | 779494870 | 665925 |
NM_000053.3:c.4195del | Saudi Arabia | NC_000013.11:g.51934961del | Pathogenic | Likely Pathogenic | Wilson Disease | NG_008806.1:g.81536del; NM_000053.3:c.4195del; NP_000044.2:p.Gln1399ArgfsTer6 | 886041336 | 280040 |
NM_000053.3:c.4230G>A | Egypt | NC_000013.11:g.51934924C>T | Pathogenic | NG_008806.1:g.81571G>A; NM_000053.3:c.4230G>A ; NP_000044.2:p.Trp1410Ter | ||||
NM_000053.3:c.4301C>T | Egypt | NC_000013.11:g.51934853G>A | Benign, Likely Benign, Uncertain Significance | Pathogenic | NG_008806.1:g.81642C>T; NM_000053.3:c.4301C>T ; NP_000044.2:p.Thr1434Met | 60986317 | 35730 | |
NM_000053.3:c.509delA | Egypt | Chr13:51974713 | Pathogenic | Wilson Disease | NG_008806.1:g.41782delA ; NM_000053.3:c.509delA; NP_000044.2:p.Gly170fs | |||
NM_000053.4:c.2304dup | Egypt; Lebanon | NC_000013.11:g.51958367dup | Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.58133dup; NM_000053.4:c.2304dup; NP_000044.2:p.Met769HisfsTer26 | 137853287 | 456552 |
NM_000053.4:c.3007G>A | Lebanon | NC_000013.11:g.51946337C>T | Likely Pathogenic, Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.70158G>A; NM_000053.4:c.3007G>A; NP_000044.2:p.Ala1003Thr | 201497300 | 188802 |
NM_000053.4:c.3275C>T | Lebanon | chr13:51942523 | Likely Pathogenic | Pathogenic | Wilson Disease | NG_008806.1:g.73972C>T; NM_000053.4:c.3275C>T; NP_000044.2:p.Thr1092Met | 368545738 | 312382 |