Variant #0000000984 (NC_000010.10:g.50708674T>C, ERCC6(NM_000124.3):c.1595A>G)

Individual ID 00000984
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.50708674T>C
Reference Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014)
DB-ID ERCC6_000070
Frequency -
Average frequency (gnomAD v.2.1.1) 0 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 ./. 7 c.1595A>G r.(?) p.(Asp532Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000984 ? ? ERCC6 1 Y Yang