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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

XPC

Type	Transcript	Protein
RefSeq	NM_004628.4:c.1001C>T	NP_004619.3:p.Pro334Leu
Ensemble	ENST00000285021.12:c.1001C>T	ENST00000285021.12:p.Pro334Leu

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	Uncertain significance
Review star
Show details

Links

XPC

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
Uncertain significance	2023-08-29	criteria provided, single submitter	not specified	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

Descrption	Source	Links
NM_004628.5(XPC):c.1001C>T (p.Pro334Leu) AND not specified	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: -
Genome: hg38
Position: chr3:14,158,882-14,158,882
Variant Type: snv
Reference Allele: G
Alternative Allele: A
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): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.289399515899069E-6

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