Variant #0000001608 (NC_000013.10:g.52524252G>A, ATP7B(NM_000053.3):c.2621C>T)

Individual ID 00001608
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52524252G>A
Reference Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)
DB-ID ATP7B_000008 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
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     
ATP7B NM_000053.3 ./. 11 c.2621C>T r.(?) p.(Ala874Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001608 ? ? ATP7B 1 Y Yang