chr7:151568801:T>C 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	chr7:151,265,887-151,265,887 View the variant detail on this assembly version.
hg38	chr7:151,568,801-151,568,801

HGVS

PRKAG2

Type	Transcript	Protein
RefSeq	NM_016203.3:c.1148A>G	NP_057287.2:p.His383Arg
	NM_001040633.1:c.1016A>G	NP_001035723.1:p.His339Arg
	NM_001304531.1:c.425A>G	NP_001291460.1:p.His142Arg
	NM_024429.1:c.425A>G	NP_077747.1:p.His142Arg
	NM_001304527.1:c.773A>G	NP_001291456.1:p.His258Arg
Ensemble	ENST00000287878.9:c.1148A>G	ENST00000287878.9:p.His383Arg
	ENST00000392801.6:c.1016A>G	ENST00000392801.6:p.His339Arg
	ENST00000418337.6:c.425A>G	ENST00000418337.6:p.His142Arg
	ENST00000492843.6:c.773A>G	ENST00000492843.6:p.His258Arg
	ENST00000650858.1:c.365A>G	ENST00000650858.1:p.His122Arg
	ENST00000651378.1:c.425A>G	ENST00000651378.1:p.His142Arg
	ENST00000651764.1:c.1016A>G	ENST00000651764.1:p.His339Arg
	ENST00000652047.1:c.1013A>G	ENST00000652047.1:p.His338Arg
	ENST00000652159.1:c.1016A>G	ENST00000652159.1:p.His339Arg
	ENST00000652321.2:c.1145A>G	ENST00000652321.2:p.His382Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	2001-05-15	no assertion criteria provided	hypertrophic cardiomyopathy 6	germline	Detail
Uncertain significance	2016-04-15	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2023-01-10	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-02-16	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.1148A>G (p.His383Arg) AND Hypertrophic cardiomyopathy 6	ClinVar	Detail
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) AND not specified	ClinVar	Detail
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) AND not provided	ClinVar	Detail
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) 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: rs121908988 dbSNP
Genome: hg38
Position: chr7:151,568,801-151,568,801
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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