Variant #0000000876 (NC_000005.9:g.60200621G>A, ERCC8(NM_000082.3):c.479C>T)

Individual ID 00000876
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.60200621G>A
Reference Ridley AJ1, Colley J, Wynford-Thomas D, Jones CJ.(2005)
DB-ID ERCC8_000006
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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     
ERCC8 NM_000082.3 ./. 5 c.479C>T r.(?) p.(Ala160Val) 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     
0000000876 ? ? ERCC8 1 Y Yang