Variant #0000320064 (NC_000003.11:g.14212047G>A, XPC(NM_004628.4):c.303C>T)

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.14212047G>A
DNA change (hg38) g.14170547G>A
Published as XPC(NM_004628.4):c.303C>T (p.D101=)
ISCN -
DB-ID XPC_000013
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) 0.00347 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.303C>T r.(?) p.(Asp101=)