Variant #0000518164 (NC_000003.11:g.14200334G>T, XPC(NM_004628.4):c.1049C>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14200334G>T
DNA change (hg38) g.14158834G>T
Published as XPC(NM_001145769.1):c.938C>A (p.(Ser313Tyr))
ISCN -
DB-ID XPC_000027
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 -?/. - c.1049C>A r.(?) p.(Ser350Tyr)