chr7:151568750:G>T 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	chr7:151,265,836-151,265,836 View the variant detail on this assembly version.
hg38	chr7:151,568,750-151,568,750

HGVS

PRKAG2

Type	Transcript	Protein
RefSeq	NM_016203.3:c.1199C>A	NP_057287.2:p.Thr400Asn
	NM_001040633.1:c.1067C>A	NP_001035723.1:p.Thr356Asn
	NM_001304531.1:c.476C>A	NP_001291460.1:p.Thr159Asn
	NM_024429.1:c.476C>A	NP_077747.1:p.Thr159Asn
	NM_001304527.1:c.824C>A	NP_001291456.1:p.Thr275Asn
Ensemble	ENST00000287878.9:c.1199C>A	ENST00000287878.9:p.Thr400Asn
	ENST00000392801.6:c.1067C>A	ENST00000392801.6:p.Thr356Asn
	ENST00000418337.6:c.476C>A	ENST00000418337.6:p.Thr159Asn
	ENST00000492843.6:c.824C>A	ENST00000492843.6:p.Thr275Asn
	ENST00000650858.1:c.416C>A	ENST00000650858.1:p.Thr139Asn
	ENST00000651378.1:c.476C>A	ENST00000651378.1:p.Thr159Asn
	ENST00000651764.1:c.1067C>A	ENST00000651764.1:p.Thr356Asn
	ENST00000652047.1:c.1064C>A	ENST00000652047.1:p.Thr355Asn
	ENST00000652159.1:c.1067C>A	ENST00000652159.1:p.Thr356Asn
	ENST00000652321.2:c.1196C>A	ENST00000652321.2:p.Thr399Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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
Pathogenic	2002-02-01	no assertion criteria provided	hypertrophic cardiomyopathy 6	germline	Detail
Likely pathogenic	2018-01-03	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2023-05-04	criteria provided, single submitter	PRKAG2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)	NA	CLINVAR		Detail
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)	Constitutively active AMP kinase mutations cause glycogen storage disease mimick...	UNIPROT	11827995	Detail

Annotation

Annotations

Descrption	Source	Links
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) AND Hypertrophic cardiomyopathy 6	ClinVar	Detail
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) AND PRKAG2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic car...	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: rs28938173 dbSNP
Genome: hg38
Position: chr7:151,568,750-151,568,750
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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