Variant #0000315514 (NC_000003.11:g.14207049G>A, XPC(NM_004628.4):c.658C>T)

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.14207049G>A
DNA change (hg38) g.14165549G>A
Published as XPC(NM_004628.4):c.658C>T (p.R220*)
ISCN -
DB-ID XPC_000010
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) 2.0E-5 View details
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 ?/. - c.658C>T r.(?) p.(Arg220Ter)