Variant #0000313748 (NC_000003.11:g.14206341G>C, XPC(NM_004628.4):c.872C>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14206341G>C
DNA change (hg38) g.14164841G>C
Published as XPC(NM_004628.4):c.872C>G (p.S291C)
ISCN -
DB-ID XPC_000009
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00331 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 -/. - c.872C>G r.(?) p.(Ser291Cys)