Variant #0000000892 (NC_000010.10:g.50740782G>A, ERCC6(NM_000124.3):c.229C>T)

Individual ID 00000892
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.50740782G>A
Reference Hashimoto S, Suga T, Kudo E, Ihn H, Uchino M, Tateishi S.(2008)
DB-ID ERCC6_000001
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
ERCC6 NM_000124.3 ./. 2 c.229C>T r.(?) p.(Arg77*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000892 ? ? ERCC6 1 Y Yang