Variant #0000000967 (NC_000013.10:g.103519037C>T, ERCC5(NM_000123.3):c.2375C>T)

Individual ID 00000967
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.103519037C>T
Reference Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014)
DB-ID ERCC5_000010
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-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     
ERCC5 NM_000123.3 ./. 11 c.2375C>T r.(?) p.(Ala792Val) 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     
0000000967 ? ? ERCC5 1 Y Yang