Variant #0000518166 (NC_000003.11:g.14206353A>C, XPC(NM_004628.4):c.860T>G)

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.14206353A>C
DNA change (hg38) g.14164853A>C
Published as XPC(NM_001145769.1):c.749T>G (p.(Phe250Cys)), XPC(NM_004628.4):c.860T>G (p.F287C)
ISCN -
DB-ID XPC_000028 See all 2 reported entries
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) 0.00137 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 -?/. - c.860T>G r.(?) p.(Phe287Cys)