Variant #0000000947 (NC_000010.10:g.50678391del1, ERCC6(NM_000124.3):c.3615del1)

Individual ID 00000947
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.50678391del1
Reference Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)
DB-ID ERCC6_000065
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     
ERCC6 NM_000124.3 ./. 18 c.3615del1 r.(?) p.(Lys1205Asnfs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000947 ? ? ERCC6 1 Y Yang