chr3:14200382:G>T Detail (hg19) (XPC)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_004628.4:c.1001C>A NP_004619.3:p.Pro334His
Ensemble ENST00000285021.12:c.1001C>A ENST00000285021.12:p.Pro334His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
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
Benign Likely benign 2023-08-22 criteria provided, multiple submitters, no conflicts Xeroderma pigmentosum, group C germline Detail
Benign 2022-02-18 criteria provided, single submitter not specified germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2020-03-26 criteria provided, single submitter xeroderma pigmentosum germline Detail
Benign 2021-04-10 criteria provided, single submitter XPC-related disorder germline Detail
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
NM_004628.5(XPC):c.1001C>A (p.Pro334His) AND Xeroderma pigmentosum, group C ClinVar Detail
NM_004628.5(XPC):c.1001C>A (p.Pro334His) AND not specified ClinVar Detail
NM_004628.5(XPC):c.1001C>A (p.Pro334His) AND not provided ClinVar Detail
NM_004628.5(XPC):c.1001C>A (p.Pro334His) AND Xeroderma pigmentosum ClinVar Detail
NM_004628.5(XPC):c.1001C>A (p.Pro334His) AND XPC-related disorder ClinVar Detail
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
hg19
Position
chr3:14,200,382-14,200,382
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120636
Allele Counts in All Race (ExAC)
345
Heterozygous Counts in All Race (ExAC)
341
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.0028598428329851787
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