Full data view for gene ATP7A

Information The variants shown are described using the NM_000052.4 transcript reference sequence.

179 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-21-9041T>C r.(=) p.(=) g.77218077T>C Copied from the Exome Variant Server ATP7A_000001 2/4524 2/3106 0/1418 - - - - - - -
?/? c.-21-8971T>A r.(=) p.(=) g.77218147T>A Copied from the Exome Variant Server ATP7A_000002 1/4525 1/3107 0/1418 - - - - - - -
?/? c.-21-8948G>A r.(=) p.(=) g.77218170G>A Copied from the Exome Variant Server ATP7A_000003 1/4525 0/3107 1/1418 - - - - - - -
?/? c.-21-8935G>T r.(=) p.(=) g.77218183G>T Copied from the Exome Variant Server ATP7A_000004 4/4525 4/3107 0/1418 - - - - - - -
?/? c.-21-8928C>A r.(=) p.(=) g.77218190C>A Copied from the Exome Variant Server ATP7A_000005 1/4525 1/3107 0/1418 - - - - - - -
?/? c.-21-8864A>G r.(=) p.(=) g.77218254A>G Copied from the Exome Variant Server ATP7A_000006 1/4525 1/3107 0/1418 - - - - - - -
?/? c.-21-8831C>A r.(=) p.(=) g.77218287C>A Copied from the Exome Variant Server ATP7A_000007 2/4525 1/3107 1/1418 - - - - - - -
?/? c.-21-2755G>A r.(=) p.(=) g.77224363G>A Copied from the Exome Variant Server ATP7A_000008 3/10557 0/6722 3/3835 - - - - - - -
?/? c.-21-2682C>T r.(?) p.(Gly234Arg) g.77224436C>T Copied from the Exome Variant Server ATP7A_000009 1/10558 0/6723 1/3835 - - - - - - -
?/? c.-21-2666C>T r.(=) p.(=) g.77224452C>T Copied from the Exome Variant Server ATP7A_000010 1/10558 0/6723 1/3835 - - - - - - -
?/? c.-21-2631C>A r.(?) p.(Val217Phe) g.77224487C>A Copied from the Exome Variant Server ATP7A_000011 1/10553 1/6718 0/3835 - - - - - - -
?/? c.-21-2572A>G r.(?) p.(Val197Ala) g.77224546A>G Copied from the Exome Variant Server ATP7A_000012 1/10558 0/6723 1/3835 - - - - - - -
?/? c.-21-2571C>T r.(?) p.(Val197Met) g.77224547C>T Copied from the Exome Variant Server ATP7A_000013 1/10558 0/6723 1/3835 - - - - - - -
?/? c.-21-2570A>G r.(=) p.(=) g.77224548A>G Copied from the Exome Variant Server ATP7A_000014 1/10558 1/6723 0/3835 - - - - - - -
?/? c.-21-2499G>C r.(?) p.(Pro173Ala) g.77224619G>C Copied from the Exome Variant Server ATP7A_000015 1/10548 1/6715 0/3833 - - - - - - -
?/? c.-21-2493T>C r.(?) p.(Ile171Val) g.77224625T>C Copied from the Exome Variant Server ATP7A_000016 1/10548 1/6713 0/3835 - - - - - - -
?/? c.-21-2450C>T r.(=) p.(=) g.77224668C>T Copied from the Exome Variant Server ATP7A_000017 1/10558 1/6723 0/3835 - - - - - - -
?/? c.-21-2374G>C r.(?) p.(Pro131Arg) g.77224744G>C Copied from the Exome Variant Server ATP7A_000018 1/10515 1/6685 0/3830 - - - - - - -
?/? c.-21-2268T>C r.(?) p.(Thr96Ala) g.77224850T>C Copied from the Exome Variant Server ATP7A_000019 5/10361 0/6581 5/3780 - - - - - - -
?/? c.-21-2260C>T r.(?) p.(Gly93Glu) g.77224858C>T Copied from the Exome Variant Server ATP7A_000020 2/10394 0/6595 2/3799 - - - - - - -
?/? c.-21-2251C>T r.(?) p.(Arg90Gln) g.77224867C>T Copied from the Exome Variant Server ATP7A_000021 658/10413 2/6603 656/3810 - - - - - - -
?/? c.-21-2239C>T r.(?) p.(Arg86His) g.77224879C>T Copied from the Exome Variant Server ATP7A_000022 502/10436 466/6623 36/3813 - - - - - - -
?/? c.-21-2142T>C r.(?) p.(Ile54Val) g.77224976T>C Copied from the Exome Variant Server ATP7A_000023 2/10558 0/6723 2/3835 - - - - - - -
?/? c.-21-2103C>G r.(?) p.(Gly41Arg) g.77225015C>G Copied from the Exome Variant Server ATP7A_000024 1/10549 0/6717 1/3832 - - - - - - -
?/? c.-21-2095G>A r.(?) p.(Ala38Val) g.77225023G>A Copied from the Exome Variant Server ATP7A_000025 1/10547 0/6712 1/3835 - - - - - - -
?/? c.-21-2087G>A r.(=) p.(=) g.77225031G>A Copied from the Exome Variant Server ATP7A_000026 1/10553 0/6718 1/3835 - - - - - - -
?/? c.-21-2061C>T r.(?) p.(Asp27Asn) g.77225057C>T Copied from the Exome Variant Server ATP7A_000027 3/10558 3/6723 0/3835 - - - - - - -
?/? c.-21-2057C>A r.(?) p.(Trp25Cys) g.77225061C>A Copied from the Exome Variant Server ATP7A_000028 1/10558 1/6723 0/3835 - - - - - - -
?/? c.-21-2043G>A r.(?) p.(Arg21Cys) g.77225075G>A Copied from the Exome Variant Server ATP7A_000029 1/10558 1/6723 0/3835 - - - - - - -
?/? c.-21-2035A>G r.(?) p.(Leu18Pro) g.77225083A>G Copied from the Exome Variant Server ATP7A_000030 1/10558 1/6723 0/3835 - - - - - - -
?/? c.-21-2019C>T r.(?) p.(Glu13Lys) g.77225099C>T Copied from the Exome Variant Server ATP7A_000031 110/10557 9/6722 101/3835 - - - - - - -
?/? c.-21-1953T>C r.(=) p.(=) g.77225165T>C Copied from the Exome Variant Server ATP7A_000032 1/10535 1/6705 0/3830 - - - - - - -
?/? c.57C>T r.(=) p.(=) g.77227195C>T Copied from the Exome Variant Server ATP7A_000033 1/10558 1/6723 0/3835 - - - - - - -
?/? c.120+15G>A r.(=) p.(=) g.77227273G>A Copied from the Exome Variant Server ATP7A_000034 1/10558 1/6723 0/3835 - - - - - - -
?/? c.120+43G>A r.(=) p.(=) g.77227301G>A Copied from the Exome Variant Server ATP7A_000035 25/10558 0/6723 25/3835 - - - - - - -
?/? c.125C>T r.(?) p.(Ser42Leu) g.77243742C>T Copied from the Exome Variant Server ATP7A_000036 1/10558 0/6723 1/3835 - - - - - - -
?/? c.177A>G r.(=) p.(=) g.77243794A>G Copied from the Exome Variant Server ATP7A_000037 1/10558 1/6723 0/3835 - - - - - - -
?/? c.183C>A r.(=) p.(=) g.77243800C>A Copied from the Exome Variant Server ATP7A_000038 1/10558 1/6723 0/3835 - - - - - - -
?/? c.282G>A r.(=) p.(=) g.77243899G>A Copied from the Exome Variant Server ATP7A_000039 5/10558 0/6723 5/3835 - - - - - - -
?/? c.312A>G r.(=) p.(=) g.77243929A>G Copied from the Exome Variant Server ATP7A_000040 2/10558 2/6723 0/3835 - - - - - - -
?/? c.327G>A r.(=) p.(=) g.77243944G>A Copied from the Exome Variant Server ATP7A_000041 118/10558 115/6723 3/3835 - - - - - - -
?/? c.400G>A r.(?) p.(Val134Met) g.77244017G>A Copied from the Exome Variant Server ATP7A_000042 1/10557 1/6723 0/3834 - - - - - - -
?/? c.491G>A r.(?) p.(Ser164Asn) g.77244108G>A Copied from the Exome Variant Server ATP7A_000043 47/10558 3/6723 44/3835 - - - - - - -
?/? c.565A>G r.(?) p.(Ile189Val) g.77244182A>G Copied from the Exome Variant Server ATP7A_000044 98/10558 2/6723 96/3835 - - - - - - -
?/? c.610+8G>A r.(=) p.(=) g.77244235G>A Copied from the Exome Variant Server ATP7A_000045 44/10556 0/6721 44/3835 - - - - - - -
?/? c.610+19A>G r.(=) p.(=) g.77244246A>G Copied from the Exome Variant Server ATP7A_000046 2/10551 2/6716 0/3835 - - - - - - -
?/? c.611-26T>C r.(=) p.(=) g.77244703T>C Copied from the Exome Variant Server ATP7A_000047 3/10217 0/6494 3/3723 - - - - - - -
?/? c.760C>G r.(?) p.(Arg254Gly) g.77244878C>G Copied from the Exome Variant Server ATP7A_000048 1/10558 0/6723 1/3835 - - - - - - -
?/? c.773C>T r.(?) p.(Thr258Ile) g.77244891C>T Copied from the Exome Variant Server ATP7A_000049 1/10556 1/6723 0/3833 - - - - - - -
?/? c.824A>G r.(?) p.(Asn275Ser) g.77244942A>G Copied from the Exome Variant Server ATP7A_000050 1/10558 0/6723 1/3835 - - - - - - -
?/? c.880A>T r.(?) p.(Asn294Tyr) g.77244998A>T Copied from the Exome Variant Server ATP7A_000051 8/10558 0/6723 8/3835 - - - - - - -
?/? c.909A>G r.(=) p.(=) g.77245027A>G Copied from the Exome Variant Server ATP7A_000052 1/10558 1/6723 0/3835 - - - - - - -
?/? c.992T>A r.(?) p.(Leu331Gln) g.77245110T>A Copied from the Exome Variant Server ATP7A_000053 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1000G>A r.(?) p.(Ala334Thr) g.77245118G>A Copied from the Exome Variant Server ATP7A_000054 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1009G>A r.(?) p.(Ala337Thr) g.77245127G>A Copied from the Exome Variant Server ATP7A_000056 3/10558 3/6723 0/3835 - - - - - - -
?/? c.1020G>A r.(=) p.(=) g.77245138G>A Copied from the Exome Variant Server ATP7A_000055 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1023G>A r.(=) p.(=) g.77245141G>A Copied from the Exome Variant Server ATP7A_000057 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1040T>C r.(?) p.(Ile347Thr) g.77245158T>C Copied from the Exome Variant Server ATP7A_000058 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1103T>C r.(?) p.(Leu368Ser) g.77245221T>C Copied from the Exome Variant Server ATP7A_000059 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1137T>C r.(=) p.(=) g.77245255T>C Copied from the Exome Variant Server ATP7A_000060 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1138G>A r.(?) p.(Val380Met) g.77245256G>A Copied from the Exome Variant Server ATP7A_000061 2/10558 0/6723 2/3835 - - - - - - -
?/? c.1152T>C r.(=) p.(=) g.77245270T>C Copied from the Exome Variant Server ATP7A_000062 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1156A>G r.(?) p.(Met386Val) g.77245274A>G Copied from the Exome Variant Server ATP7A_000063 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1224A>G r.(?) p.(Ile408Met) g.77245342A>G Copied from the Exome Variant Server ATP7A_000064 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1270C>T r.(=) p.(=) g.77245388C>T Copied from the Exome Variant Server ATP7A_000065 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1290G>A r.(=) p.(=) g.77245408G>A Copied from the Exome Variant Server ATP7A_000066 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1313T>C r.(?) p.(Met438Thr) g.77245431T>C Copied from the Exome Variant Server ATP7A_000067 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1337-5A>G r.spl? p.? g.77253970A>G Copied from the Exome Variant Server ATP7A_000068 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1368G>T r.(?) p.(Gln456His) g.77254006G>T Copied from the Exome Variant Server ATP7A_000069 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1370C>T r.(?) p.(Pro457Leu) g.77254008C>T Copied from the Exome Variant Server ATP7A_000070 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1375T>C r.(?) p.(Ser459Pro) g.77254013T>C Copied from the Exome Variant Server ATP7A_000071 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1377G>A r.(=) p.(=) g.77254015G>A Copied from the Exome Variant Server ATP7A_000072 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1385C>T r.(?) p.(Pro462Leu) g.77254023C>T Copied from the Exome Variant Server ATP7A_000073 2/10558 2/6723 0/3835 - - - - - - -
?/? c.1396T>C r.(?) p.(Ser466Pro) g.77254034T>C Copied from the Exome Variant Server ATP7A_000074 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1415C>T r.(?) p.(Thr472Ile) g.77254053C>T Copied from the Exome Variant Server ATP7A_000075 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1516A>G r.(?) p.(Ile506Val) g.77254154A>G Copied from the Exome Variant Server ATP7A_000076 98/10558 2/6723 96/3835 - - - - - - -
?/? c.1543+9C>G r.(=) p.(=) g.77254190C>G Copied from the Exome Variant Server ATP7A_000077 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1543+47T>G r.(=) p.(=) g.77254228T>G Copied from the Exome Variant Server ATP7A_000078 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1544-37A>G r.(=) p.(=) g.77258533A>G Copied from the Exome Variant Server ATP7A_000079 1/10551 1/6716 0/3835 - - - - - - -
?/? c.1561G>A r.(?) p.(Val521Met) g.77258587G>A Copied from the Exome Variant Server ATP7A_000080 1/10558 0/6723 1/3835 - - - - - - -
?/? c.1574C>G r.(?) p.(Ala525Gly) g.77258600C>G Copied from the Exome Variant Server ATP7A_000081 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1677T>G r.(=) p.(=) g.77258703T>G Copied from the Exome Variant Server ATP7A_000082 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1707+37_1707+38insG r.(=) p.(=) g.77258770_77258771insG Copied from the Exome Variant Server ATP7A_000083 49/10194 44/6473 5/3721 - - - - - - -
?/? c.1707+39del r.(=) p.(=) g.77258772del Copied from the Exome Variant Server ATP7A_000085 9/10191 4/6470 5/3721 - - - - - - -
?/? c.1707+39dup r.(=) p.(=) g.77258772dup Copied from the Exome Variant Server ATP7A_000084 49/10191 39/6470 10/3721 - - - - - - -
?/? c.1735G>A r.(?) p.(Val579Ile) g.77264626G>A Copied from the Exome Variant Server ATP7A_000086 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1749G>A r.(=) p.(=) g.77264640G>A Copied from the Exome Variant Server ATP7A_000087 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1768A>G r.(?) p.(Arg590Gly) g.77264659A>G Copied from the Exome Variant Server ATP7A_000088 14/10558 0/6723 14/3835 - - - - - - -
?/? c.1788C>A r.(=) p.(=) g.77264679C>A Copied from the Exome Variant Server ATP7A_000089 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1802C>A r.(?) p.(Thr601Asn) g.77264693C>A Copied from the Exome Variant Server ATP7A_000090 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1811C>T r.(?) p.(Ala604Val) g.77264702C>T Copied from the Exome Variant Server ATP7A_000091 1/10558 1/6723 0/3835 - - - - - - -
?/? c.1823A>G r.(?) p.(Tyr608Cys) g.77264714A>G Copied from the Exome Variant Server ATP7A_000092 44/10558 0/6723 44/3835 - - - - - - -
?/? c.1870-48A>G r.(=) p.(=) g.77266625A>G Copied from the Exome Variant Server ATP7A_000093 3/10533 0/6706 3/3827 - - - - - - -
?/? c.1893G>C r.(?) p.(Leu631Phe) g.77266696G>C Copied from the Exome Variant Server ATP7A_000094 2/10556 2/6721 0/3835 - - - - - - -
?/? c.1946+49C>A r.(=) p.(=) g.77266798C>A Copied from the Exome Variant Server ATP7A_000095 4/10542 4/6711 0/3831 - - - - - - -
?/? c.1946+51A>C r.(=) p.(=) g.77266800A>C Copied from the Exome Variant Server ATP7A_000096 3/10538 3/6711 0/3827 - - - - - - -
?/? c.1946+52_1946+53insT r.(=) p.(=) g.77266801_77266802insT Copied from the Exome Variant Server ATP7A_000097 37/10155 9/6459 28/3696 - - - - - - -
?/? c.1947-16A>C r.(=) p.(=) g.77266930A>C Copied from the Exome Variant Server ATP7A_000098 1/10553 0/6718 1/3835 - - - - - - -
?/? c.1954C>T r.(?) p.(Arg652Trp) g.77266953C>T Copied from the Exome Variant Server ATP7A_000099 2/10558 0/6723 2/3835 - - - - - - -
?/? c.1955G>A r.(?) p.(Arg652Gln) g.77266954G>A Copied from the Exome Variant Server ATP7A_000100 13/10558 0/6723 13/3835 - - - - - - -
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