Variant #0000000969 (NC_000013.10:g.103520502T>C, ERCC5(NM_000123.3):c.2573T>C)

Individual ID 00000969
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.103520502T>C
Reference Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014)
DB-ID ERCC5_000011
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     
ERCC5 NM_000123.3 ./. 12 c.2573T>C r.(?) p.(Leu858Pro) 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     
0000000969 ? ? ERCC5 1 Y Yang