chr7:151272015:A>C Detail (hg19) (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	chr7:151,272,015-151,272,015
hg38	chr7:151,574,929-151,574,929 View the variant detail on this assembly version.

HGVS

PRKAG2

Type	Transcript	Protein
RefSeq	NM_016203.3:c.967T>G	NP_057287.2:p.Phe323Val
	NM_001040633.1:c.835T>G	NP_001035723.1:p.Phe279Val
	NM_001304531.1:c.244T>G	NP_001291460.1:p.Phe82Val
	NM_024429.1:c.244T>G	NP_077747.1:p.Phe82Val
	NM_001304527.1:c.592T>G	NP_001291456.1:p.Phe198Val
Ensemble	ENST00000287878.9:c.967T>G	ENST00000287878.9:p.Phe323Val
	ENST00000392801.6:c.835T>G	ENST00000392801.6:p.Phe279Val
	ENST00000418337.6:c.244T>G	ENST00000418337.6:p.Phe82Val
	ENST00000492843.6:c.592T>G	ENST00000492843.6:p.Phe198Val
	ENST00000650858.1:c.184T>G	ENST00000650858.1:p.Phe62Val
	ENST00000651378.1:c.244T>G	ENST00000651378.1:p.Phe82Val
	ENST00000651764.1:c.835T>G	ENST00000651764.1:p.Phe279Val
	ENST00000652047.1:c.832T>G	ENST00000652047.1:p.Phe278Val
	ENST00000652159.1:c.835T>G	ENST00000652159.1:p.Phe279Val
	ENST00000652321.2:c.964T>G	ENST00000652321.2:p.Phe322Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-01-02	criteria provided, single submitter	lethal congenital glycogen storage disease of heart	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val) 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: rs397517283 dbSNP
Genome: hg19
Position: chr7:151,272,015-151,272,015
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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