Variant #0000518160 (NC_000003.11:g.14199852T>G, XPC(NM_004628.4):c.1531A>C)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.14199852T>G
DNA change (hg38) g.14158352T>G
Published as XPC(NM_004628.4):c.1531A>C (p.K511Q)
ISCN -
DB-ID XPC_000022
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 ?/. - c.1531A>C r.(?) p.(Lys511Gln)