Variant #0000002313 (NC_000023.10:g.77286920A>C, ATP7A(NM_000052.6):c.3134A>C)

Individual ID 00002313
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77286920A>C
Reference M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)
DB-ID ATP7A_000086
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
ATP7A NM_000052.6 ./. 16 c.3134A>C r.(?) p.(Lys1045Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002313 ? ? ATP7A 1 Y Yang