chr3:14148720:G> Detail (hg38) (XPC)

Information

Genome

Assembly Position
hg19 chr3:14,190,220-14,190,220 
hg38 chr3:14,148,720-14,148,720

HGVS

Type Transcript Protein
RefSeq NM_004628.4:c.2262delC NP_004619.3:p.Asn754LysfsTer13
Ensemble ENST00000285021.12:c.2262delC ENST00000285021.12:p.Asn754LysfsTer13
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 2011-01-27 criteria provided, single submitter 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.2262del (p.Asn754fs) AND Xeroderma pigmentosum, group C ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs786205206 dbSNP
Genome
hg38
Position
chr3:14,148,720-14,148,720
Variant Type
snv
Reference Allele
G
Alternative Allele
-
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