chr3:14158882:G>C Detail (hg38) (XPC)

Information

Genome

Assembly Position
hg19 chr3:14,200,382-14,200,382 View the variant detail on this assembly version.
hg38 chr3:14,158,882-14,158,882

HGVS

Type Transcript Protein
RefSeq NM_004628.4:c.1001C>G NP_004619.3:p.Pro334Arg
Ensemble ENST00000285021.12:c.1001C>G ENST00000285021.12:p.Pro334Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.569 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C NA CLINVAR Detail
<0.001 xeroderma pigmentosum In an effort to understand the severity of XP-C phenotypes, we also demonstrated... BeFree 18809580 Detail
0.021 xeroderma pigmentosum In an effort to understand the severity of XP-C phenotypes, we also demonstrated... BeFree 18809580 Detail
0.569 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C These results extend our previous observations and indicate that defects in XPCC... UNIPROT 8298653 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutatio... DisGeNET Detail
In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutatio... DisGeNET Detail
These results extend our previous observations and indicate that defects in XPCC cause Xeroderma pig... 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
rs74737358 dbSNP
Genome
hg38
Position
chr3:14,158,882-14,158,882
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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