chr19:19737387:G>A Detail (hg19) (LPAR2)

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

Information

Genome

Assembly	Position
hg19	chr19:19,737,387-19,737,387
hg38	chr19:19,626,578-19,626,578 View the variant detail on this assembly version.

HGVS

LPAR2

Type	Transcript	Protein
RefSeq	NM_004720.5:c.698C>T	NP_004711.2:p.Thr233Met
Ensemble	ENST00000407877.8:c.698C>T	ENST00000407877.8:p.Thr233Met
	ENST00000542587.5:c.698C>T	ENST00000542587.5:p.Thr233Met
	ENST00000586703.1:c.698C>T	ENST00000586703.1:p.Thr233Met

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	Benign
Review star
Show details

Links

LPAR2

Type	Database	ID	Link
Gene	MIM	605110	OMIM
	HGNC	3168	HGNC
	Ensembl	ENSG00000064547	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
Benign	2019-12-31	criteria provided, single submitter	not provided	germline	Detail

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
NM_004720.6(LPAR2):c.707C>T (p.Thr236Met) AND not provided	ClinVar	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
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: rs145986311 dbSNP
Genome: hg19
Position: chr19:19,737,387-19,737,387
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8524
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): 113708
Allele Counts in All Race (ExAC): 590
Heterozygous Counts in All Race (ExAC): 586
Homozygous Counts in All Race (ExAC): 2
Allele Frequency in All Race (ExAC): 0.0051887290252225

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