chr3:14197833:A>C Detail (hg19) (XPC)

Information

Genome

Assembly Position
hg19 chr3:14,197,833-14,197,833
hg38 chr3:14,156,333-14,156,333 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004628.4:c.2033+2T>G
Ensemble ENST00000285021.12:c.2033+2T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 613208 OMIM
HGNC 12816 HGNC
Ensembl ENSG00000154767 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-11-01 no assertion criteria provided Xeroderma pigmentosum, group C germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.569 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004628.5(XPC):c.2033+2T>G AND Xeroderma pigmentosum, group C ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs794729655 dbSNP
Genome
hg19
Position
chr3:14,197,833-14,197,833
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser