Full data view for gene ATP7A

Information The variants shown are described using the NM_000052.6 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

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DB-ID     

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Technique     

Disease     

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Panel size     

Owner     
./. 16 c.3143C>T r.(?) p.(Thr1048Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.77286929C>T Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010) ATP7A_000114 - ? ? MK Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010) - - 1 Y Yang
./. 16 c.3143C>T r.(?) p.(Thr1048Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.77286929C>T León-García G1, Santana A, Villegas-Sepúlveda N, Pérez-González C, Henrríquez-Esquíroz JM, de León-García C, Wong C, Baeza I.(2012) ATP7A_000114 - ? ? MK León-García G1, Santana A, Villegas-Sepúlveda N, Pérez-González C, Henrríquez-Esquíroz JM, de León-García C, Wong C, Baeza I.(2012) - - 1 Y Yang
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