chr13:48707239:T>C Detail (hg38) (CYSLTR2)

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Summary
Information
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Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr13:49,281,375-49,281,375 View the variant detail on this assembly version.
hg38	chr13:48,707,239-48,707,239

HGVS

CYSLTR2

Type	Transcript	Protein
RefSeq	NM_001308471.1:c.422T>C	NP_001295400.1:p.Val141Ala
	NM_001308468.1:c.422T>C	NP_001295397.1:p.Val141Ala
	NM_001308469.1:c.422T>C	NP_001295398.1:p.Val141Ala
	NM_001308470.1:c.422T>C	NP_001295399.1:p.Val141Ala
	NM_001308476.1:c.422T>C	NP_001295405.1:p.Val141Ala
	NM_020377.3:c.422T>C	NP_065110.1:p.Val141Ala
Ensemble	ENST00000282018.4:c.422T>C	ENST00000282018.4:p.Val141Ala
	ENST00000614739.4:c.422T>C	ENST00000614739.4:p.Val141Ala
	ENST00000682523.1:c.422T>C	ENST00000682523.1:p.Val141Ala

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

CYSLTR2

Type	Database	ID	Link
Gene	MIM	605666	OMIM
	HGNC	18274	HGNC
	Ensembl	ENSG00000152207	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM4571279	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.012	essential hypertension	Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP...	BeFree	12446468	Detail
0.171	essential hypertension	Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP...	BeFree	12446468	Detail
0.003	essential hypertension	Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP...	BeFree	12446468	Detail
<0.001	essential hypertension	Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP...	BeFree	12446468	Detail

Annotation

Annotations

Descrption	Source	Links
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr...	DisGeNET	Detail
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr...	DisGeNET	Detail
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr...	DisGeNET	Detail
Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G pr...	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: rs200657541 dbSNP
Genome: hg38
Position: chr13:48,707,239-48,707,239
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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