Variant #0000518163 (NC_000003.11:g.14200205C>T, XPC(NM_004628.4):c.1178G>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.14200205C>T
DNA change (hg38) g.14158705C>T
Published as XPC(NM_004628.4):c.1178G>A (p.R393Q)
ISCN -
DB-ID XPC_000026
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) 3.0E-5 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.1178G>A r.(?) p.(Arg393Gln)