chr8:30977919:C>T Detail (hg19) (WRN)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr8:30,977,919-30,977,919
hg38	chr8:31,120,403-31,120,403 View the variant detail on this assembly version.

HGVS

WRN

Type	Transcript	Protein
RefSeq	NM_000553.4:c.2609C>T	NP_000544.2:p.Pro870Leu
Ensemble	ENST00000298139.7:c.2609C>T	ENST00000298139.7:p.Pro870Leu

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

WRN

Type	Database	ID	Link
Gene	MIM	604611	OMIM
	HGNC	12791	HGNC
	Ensembl	ENSG00000165392	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	2023-01-31	criteria provided, single submitter	Werner syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.080	breast carcinoma	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.360	Malignant neoplasm of breast	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.010	Malignant neoplasm of breast	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.003	breast carcinoma	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000553.6(WRN):c.2609C>T (p.Pro870Leu) AND Werner syndrome	ClinVar	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	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: hg19
Position: chr8:30,977,919-30,977,919
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8578
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): 120424
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6607985119245332E-5

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