Variant #0000002222 (NC_000023.10:g.77258734G>A, ATP7A(NM_000052.6):c.1707+1G>A)

Individual ID 00002222
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77258734G>A
Reference M?ller LB1, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N.(2000)
DB-ID ATP7A_000002
Frequency ADMIN
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 ./. 6i c.1707+1G>A r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002222 ? ? ATP7A 1 Y Yang