Variant #0000000887 (NC_000005.9:g.60183311_60194146del279, ERCC8(NM_000082.3):c.800_1078del279)

Individual ID 00000887
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.60183311_60194146del279
Reference Henning KA1, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC.(1995)
DB-ID ERCC8_000020
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     
ERCC8 NM_000082.3 ./. 9 c.800_1078del279 r.(?) p.(Asn267_Ala360delinsThr) VariO:0141 DNA deletion VariO:0029 sequence retaining amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000887 ? ? ERCC8 1 Y Yang