Full data view for gene PGAM4

Information The variants shown are described using the NM_001029891.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.37G>A r.(?) p.(Glu13Lys) g.77225099C>T Copied from the Exome Variant Server ATP7A_000031 110/10557 9/6722 101/3835 - - - - - - -
?/? c.53T>C r.(?) p.(Leu18Pro) g.77225083A>G Copied from the Exome Variant Server ATP7A_000030 1/10558 1/6723 0/3835 - - - - - - -
?/? c.61C>T r.(?) p.(Arg21Cys) g.77225075G>A Copied from the Exome Variant Server ATP7A_000029 1/10558 1/6723 0/3835 - - - - - - -
?/? c.75G>T r.(?) p.(Trp25Cys) g.77225061C>A Copied from the Exome Variant Server ATP7A_000028 1/10558 1/6723 0/3835 - - - - - - -
?/? c.79G>A r.(?) p.(Asp27Asn) g.77225057C>T Copied from the Exome Variant Server ATP7A_000027 3/10558 3/6723 0/3835 - - - - - - -
?/? c.105C>T r.(=) p.(=) g.77225031G>A Copied from the Exome Variant Server ATP7A_000026 1/10553 0/6718 1/3835 - - - - - - -
?/? c.113C>T r.(?) p.(Ala38Val) g.77225023G>A Copied from the Exome Variant Server ATP7A_000025 1/10547 0/6712 1/3835 - - - - - - -
?/? c.121G>C r.(?) p.(Gly41Arg) g.77225015C>G Copied from the Exome Variant Server ATP7A_000024 1/10549 0/6717 1/3832 - - - - - - -
?/? c.160A>G r.(?) p.(Ile54Val) g.77224976T>C Copied from the Exome Variant Server ATP7A_000023 2/10558 0/6723 2/3835 - - - - - - -
?/? c.257G>A r.(?) p.(Arg86His) g.77224879C>T Copied from the Exome Variant Server ATP7A_000022 502/10436 466/6623 36/3813 - - - - - - -
?/? c.269G>A r.(?) p.(Arg90Gln) g.77224867C>T Copied from the Exome Variant Server ATP7A_000021 658/10413 2/6603 656/3810 - - - - - - -
?/? c.278G>A r.(?) p.(Gly93Glu) g.77224858C>T Copied from the Exome Variant Server ATP7A_000020 2/10394 0/6595 2/3799 - - - - - - -
?/? c.286A>G r.(?) p.(Thr96Ala) g.77224850T>C Copied from the Exome Variant Server ATP7A_000019 5/10361 0/6581 5/3780 - - - - - - -
?/? c.392C>G r.(?) p.(Pro131Arg) g.77224744G>C Copied from the Exome Variant Server ATP7A_000018 1/10515 1/6685 0/3830 - - - - - - -
?/? c.468G>A r.(=) p.(=) g.77224668C>T Copied from the Exome Variant Server ATP7A_000017 1/10558 1/6723 0/3835 - - - - - - -
?/? c.511A>G r.(?) p.(Ile171Val) g.77224625T>C Copied from the Exome Variant Server ATP7A_000016 1/10548 1/6713 0/3835 - - - - - - -
?/? c.517C>G r.(?) p.(Pro173Ala) g.77224619G>C Copied from the Exome Variant Server ATP7A_000015 1/10548 1/6715 0/3833 - - - - - - -
?/? c.588T>C r.(=) p.(=) g.77224548A>G Copied from the Exome Variant Server ATP7A_000014 1/10558 1/6723 0/3835 - - - - - - -
?/? c.589G>A r.(?) p.(Val197Met) g.77224547C>T Copied from the Exome Variant Server ATP7A_000013 1/10558 0/6723 1/3835 - - - - - - -
?/? c.590T>C r.(?) p.(Val197Ala) g.77224546A>G Copied from the Exome Variant Server ATP7A_000012 1/10558 0/6723 1/3835 - - - - - - -
?/? c.649G>T r.(?) p.(Val217Phe) g.77224487C>A Copied from the Exome Variant Server ATP7A_000011 1/10553 1/6718 0/3835 - - - - - - -
?/? c.684G>A r.(=) p.(=) g.77224452C>T Copied from the Exome Variant Server ATP7A_000010 1/10558 0/6723 1/3835 - - - - - - -
?/? c.700G>A r.(?) p.(Gly234Arg) g.77224436C>T Copied from the Exome Variant Server ATP7A_000009 1/10558 0/6723 1/3835 - - - - - - -
?/? c.*8C>T r.(=) p.(=) g.77224363G>A Copied from the Exome Variant Server ATP7A_000008 3/10557 0/6722 3/3835 - - - - - - -
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