Variant #0000002357 (NC_000023.10:g.77275857C>T, ATP7A(NM_000052.6):c.2743C>T)

Individual ID 00002357
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77275857C>T
Reference Kim JH1, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.(2015)
DB-ID ATP7A_000117 See all 2 reported entries
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 ./. 13 c.2743C>T r.(?) p.(Gln915*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002357 ? ? ATP7A 1 Y Yang