chr7:151568798:C>G Detail (hg38) (PRKAG2)

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

Genome

Assembly	Position
hg19	chr7:151,265,884-151,265,884 View the variant detail on this assembly version.
hg38	chr7:151,568,798-151,568,798

HGVS

PRKAG2

Type	Transcript	Protein
RefSeq	NM_016203.3:c.1151G>C	NP_057287.2:p.Arg384Thr
	NM_001040633.1:c.1019G>C	NP_001035723.1:p.Arg340Thr
	NM_001304531.1:c.428G>C	NP_001291460.1:p.Arg143Thr
	NM_024429.1:c.428G>C	NP_077747.1:p.Arg143Thr
	NM_001304527.1:c.776G>C	NP_001291456.1:p.Arg259Thr
Ensemble	ENST00000287878.9:c.1151G>C	ENST00000287878.9:p.Arg384Thr
	ENST00000392801.6:c.1019G>C	ENST00000392801.6:p.Arg340Thr
	ENST00000418337.6:c.428G>C	ENST00000418337.6:p.Arg143Thr
	ENST00000492843.6:c.776G>C	ENST00000492843.6:p.Arg259Thr
	ENST00000650858.1:c.368G>C	ENST00000650858.1:p.Arg123Thr
	ENST00000651378.1:c.428G>C	ENST00000651378.1:p.Arg143Thr
	ENST00000651764.1:c.1019G>C	ENST00000651764.1:p.Arg340Thr
	ENST00000652047.1:c.1016G>C	ENST00000652047.1:p.Arg339Thr
	ENST00000652159.1:c.1019G>C	ENST00000652159.1:p.Arg340Thr
	ENST00000652321.2:c.1148G>C	ENST00000652321.2:p.Arg383Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2007-10-01	no assertion criteria provided	lethal congenital glycogen storage disease of heart	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Glycogen Storage Disease of Heart, Lethal Congenital	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr) AND Lethal congenital glycogen storage disease of heart	ClinVar	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: -
dbSNP: rs730882148 dbSNP
Genome: hg38
Position: chr7:151,568,798-151,568,798
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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