RNASEH2B p.Leu52Trp (p.L52W) Detail (hg19) (RNASEH2B)

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

Genome

Assembly	Position
hg19	chr13:51,503,629-51,503,629
hg38	chr13:50,929,493-50,929,493 View the variant detail on this assembly version.

HGVS

RNASEH2B

Type	Transcript	Protein
RefSeq	NM_024570.3:c.155T>G	NP_078846.2:p.Leu52Trp
	NM_001142279.2:c.155T>G	NP_001135751.1:p.Leu52Trp
Ensemble	ENST00000336617.8:c.155T>G	ENST00000336617.8:p.Leu52Trp
	ENST00000422660.6:c.155T>G	ENST00000422660.6:p.Leu52Trp
	ENST00000611510.5:c.65T>G	ENST00000611510.5:p.Leu22Trp
	ENST00000616907.2:c.155T>G	ENST00000616907.2:p.Leu52Trp
	ENST00000637648.3:c.65T>G	ENST00000637648.3:p.Leu22Trp
	ENST00000642454.1:c.65T>G	ENST00000642454.1:p.Leu22Trp
	ENST00000642995.1:c.137-1190T>G
	ENST00000643159.1:c.65T>G	ENST00000643159.1:p.Leu22Trp
	ENST00000643682.1:c.155T>G	ENST00000643682.1:p.Leu52Trp
	ENST00000643774.1:c.119T>G	ENST00000643774.1:p.Leu40Trp
	ENST00000644034.1:c.65-18494T>G
	ENST00000645188.1:c.155T>G	ENST00000645188.1:p.Leu52Trp
	ENST00000645370.2:c.119T>G	ENST00000645370.2:p.Leu40Trp
	ENST00000645618.1:c.65T>G	ENST00000645618.1:p.Leu22Trp
	ENST00000645955.1:c.155T>G	ENST00000645955.1:p.Leu52Trp
	ENST00000645990.1:c.155T>G	ENST00000645990.1:p.Leu52Trp
	ENST00000646709.1:c.65T>G	ENST00000646709.1:p.Leu22Trp
	ENST00000646731.1:c.155T>G	ENST00000646731.1:p.Leu52Trp
	ENST00000646960.1:c.155T>G	ENST00000646960.1:p.Leu52Trp
	ENST00000647387.1:c.65T>G	ENST00000647387.1:p.Leu22Trp
	ENST00000713969.1:c.65-13828T>G
	ENST00000713971.1:c.176T>G	ENST00000713971.1:p.Leu59Trp
	ENST00000713973.1:c.65T>G	ENST00000713973.1:p.Leu22Trp
	ENST00000713976.1:c.65T>G	ENST00000713976.1:p.Leu22Trp

Summary

MGeND

Clinical significance	Likely pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

RNASEH2B

Type	Database	ID	Link
Gene	MIM	610326	OMIM
	HGNC	25671	HGNC
	Ensembl	ENSG00000136104	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

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: chr13:51,503,629-51,503,629
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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