chr7:151273498:C>A Detail (hg19) (PRKAG2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:151,273,498-151,273,498
hg38	chr7:151,576,412-151,576,412 View the variant detail on this assembly version.

HGVS

PRKAG2

Type	Transcript	Protein
RefSeq	NM_016203.3:c.905G>T	NP_057287.2:p.Arg302Leu
	NM_001040633.1:c.773G>T	NP_001035723.1:p.Arg258Leu
	NM_001304531.1:c.182G>T	NP_001291460.1:p.Arg61Leu
	NM_024429.1:c.182G>T	NP_077747.1:p.Arg61Leu
	NM_001304527.1:c.530G>T	NP_001291456.1:p.Arg177Leu
Ensemble	ENST00000287878.9:c.905G>T	ENST00000287878.9:p.Arg302Leu
	ENST00000392801.6:c.773G>T	ENST00000392801.6:p.Arg258Leu
	ENST00000418337.6:c.182G>T	ENST00000418337.6:p.Arg61Leu
	ENST00000492843.6:c.530G>T	ENST00000492843.6:p.Arg177Leu
	ENST00000650858.1:c.122G>T	ENST00000650858.1:p.Arg41Leu
	ENST00000651378.1:c.182G>T	ENST00000651378.1:p.Arg61Leu
	ENST00000651764.1:c.773G>T	ENST00000651764.1:p.Arg258Leu
	ENST00000652047.1:c.770G>T	ENST00000652047.1:p.Arg257Leu
	ENST00000652159.1:c.773G>T	ENST00000652159.1:p.Arg258Leu
	ENST00000652321.2:c.902G>T	ENST00000652321.2:p.Arg301Leu

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

PRKAG2

Type	Database	ID	Link
Gene	MIM	602743	OMIM
	HGNC	9386	HGNC
	Ensembl	ENSG00000106617	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.366	Wolff-Parkinson-White syndrome	Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycog...	BeFree	20031621	Detail
0.001	Wolff-Parkinson-White syndrome	We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP...	BeFree	15611370	Detail
0.366	Wolff-Parkinson-White syndrome	We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP...	BeFree	15611370	Detail
0.001	Glycogen Storage Disease Type IIb	Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycog...	BeFree	20031621	Detail
0.366	Wolff-Parkinson-White syndrome	NA	CLINVAR		Detail
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycogen storage cardiomyo...	DisGeNET	Detail
We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP-activated protein k...	DisGeNET	Detail
We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP-activated protein k...	DisGeNET	Detail
Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycogen storage cardiomyo...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	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: chr7:151,273,498-151,273,498
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8382
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): 116002
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.62054102515474E-6

Genome browser