chr3:14152389:C>G 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	chr3:14,193,889-14,193,889 View the variant detail on this assembly version.
hg38	chr3:14,152,389-14,152,389

HGVS

XPC

Type	Transcript	Protein
RefSeq	NM_004628.4:c.2061G>C	NP_004619.3:p.Arg687Ser
Ensemble	ENST00000285021.12:c.2061G>C	ENST00000285021.12:p.Arg687Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.005	breast carcinoma	We evaluated associations between seven single-nucleotide polymorphisms in four ...	BeFree	21622940	Detail
0.018	breast carcinoma	We evaluated associations between seven single-nucleotide polymorphisms in four ...	BeFree	21622940	Detail
0.098	Malignant neoplasm of breast	We evaluated associations between seven single-nucleotide polymorphisms in four ...	BeFree	21622940	Detail
0.002	breast carcinoma	We evaluated associations between seven single-nucleotide polymorphisms in four ...	BeFree	21622940	Detail
0.026	Malignant neoplasm of breast	We evaluated associations between seven single-nucleotide polymorphisms in four ...	BeFree	21622940	Detail
0.023	Malignant neoplasm of breast	We evaluated associations between seven single-nucleotide polymorphisms in four ...	BeFree	21622940	Detail

Annotation

Annotations

Descrption	Source	Links
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER...	DisGeNET	Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER...	DisGeNET	Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER...	DisGeNET	Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER...	DisGeNET	Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER...	DisGeNET	Detail
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER...	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: rs2227998 dbSNP
Genome: hg38
Position: chr3:14,152,389-14,152,389
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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