Variant #0000002244 (NC_000023.10:g.77284886G>A, ATP7A(NM_000052.6):c.3056G>A)

Individual ID 00002244
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77284886G>A
Reference Kim BE1, Smith K, Meagher CK, Petris MJ.(2002)
DB-ID ATP7A_000022 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 ./. 15 c.3056G>A r.(?) p.(Gly1019Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002244 ? ? ATP7A 1 Y Yang