Variant #0000250086 (NC_000003.11:g.14200021A>G, XPC(NM_004628.4):c.1362T>C)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14200021A>G
DNA change (hg38) g.14158521A>G
Published as XPC(NM_004628.4):c.1362T>C (p.D454=)
ISCN -
DB-ID XPC_000025
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) 0.00242 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XPC NM_004628.4 -/. - c.1362T>C r.(?) p.(Asp454=)