Variant #0000002223 (NC_000023.10:g.77266672G>C, ATP7A(NM_000052.6):c.1870-1G>C)

Individual ID 00002223
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77266672G>C
Reference Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)
DB-ID ATP7A_000003
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
ATP7A NM_000052.6 ./. 7i c.1870-1G>C r.? p.? VariO:0136 DNA substitution; VariO:0316 transversion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002223 ? ? ATP7A 1 Y Yang