chr11:62881991:G>A Detail (hg38) (SLC3A2)

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

Genome

Assembly	Position
hg19	chr11:62,649,463-62,649,463 View the variant detail on this assembly version.
hg38	chr11:62,881,991-62,881,991

HGVS

SLC3A2

Type	Transcript	Protein
RefSeq	NM_001013251.2:c.523G>A	NP_001013269.1:p.Asp175Asn
	NM_001012664.2:c.640G>A	NP_001012682.1:p.Asp214Asn
	NM_002394.5:c.826G>A	NP_002385.3:p.Asp276Asn
	NM_001012662.2:c.829G>A	NP_001012680.1:p.Asp277Asn
	NR_037193.1:c.136G>A
Ensemble	ENST00000338663.12:c.523G>A	ENST00000338663.12:p.Asp175Asn
	ENST00000377889.6:c.640G>A	ENST00000377889.6:p.Asp214Asn
	ENST00000377890.6:c.826G>A	ENST00000377890.6:p.Asp276Asn
	ENST00000377891.6:c.829G>A	ENST00000377891.6:p.Asp277Asn
	ENST00000535296.5:c.733G>A	ENST00000535296.5:p.Asp245Asn
	ENST00000536981.6:c.136G>A	ENST00000536981.6:p.Asp46Asn
	ENST00000680729.1:c.745G>A	ENST00000680729.1:p.Asp249Asn
	ENST00000681232.1:c.535G>A	ENST00000681232.1:p.Asp179Asn
	ENST00000681657.1:c.523G>A	ENST00000681657.1:p.Asp175Asn

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
Review star	[No Data.]
Show details

Links

SLC3A2

Type	Database	ID	Link
Gene	MIM	158070	OMIM
	HGNC	11026	HGNC
	Ensembl	ENSG00000168003	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv373604556	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
0.054	hypertrophic cardiomyopathy	Genotype-phenotype correlative studies have implicated 8 particular mutations th...	BeFree	12473556	Detail
0.156	hypertrophic cardiomyopathy	Genotype-phenotype correlative studies have implicated 8 particular mutations th...	BeFree	12473556	Detail

Annotation

Annotations

Descrption	Source	Links
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi...	DisGeNET	Detail
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi...	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: hg38
Position: chr11:62,881,991-62,881,991
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121410
Allele Counts in All Race (ExAC): 89
Heterozygous Counts in All Race (ExAC): 89
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.330532905032534E-4

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