chr7:151257646:A>G 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	chr7:151,257,646-151,257,646
hg38	chr7:151,560,560-151,560,560 View the variant detail on this assembly version.

HGVS

PRKAG2

Type	Transcript	Protein
RefSeq	NM_016203.3:c.1642T>C	NP_057287.2:p.Ser548Pro
	NM_001040633.1:c.1510T>C	NP_001035723.1:p.Ser504Pro
	NM_001304531.1:c.919T>C	NP_001291460.1:p.Ser307Pro
	NM_024429.1:c.919T>C	NP_077747.1:p.Ser307Pro
	NM_001304527.1:c.1267T>C	NP_001291456.1:p.Ser423Pro
Ensemble	ENST00000287878.9:c.1642T>C	ENST00000287878.9:p.Ser548Pro
	ENST00000392801.6:c.1510T>C	ENST00000392801.6:p.Ser504Pro
	ENST00000418337.6:c.919T>C	ENST00000418337.6:p.Ser307Pro
	ENST00000492843.6:c.1267T>C	ENST00000492843.6:p.Ser423Pro
	ENST00000650858.1:c.859T>C	ENST00000650858.1:p.Ser287Pro
	ENST00000651378.1:c.919T>C	ENST00000651378.1:p.Ser307Pro
	ENST00000651764.1:c.1510T>C	ENST00000651764.1:p.Ser504Pro
	ENST00000652047.1:c.1507T>C	ENST00000652047.1:p.Ser503Pro
	ENST00000652159.1:c.1510T>C	ENST00000652159.1:p.Ser504Pro
	ENST00000652321.2:c.1639T>C	ENST00000652321.2:p.Ser547Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	2006-03-01	no assertion criteria provided	hypertrophic cardiomyopathy 6	germline	Detail
Uncertain significance	2019-12-19	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.1642T>C (p.Ser548Pro) AND Hypertrophic cardiomyopathy 6	ClinVar	Detail
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro) 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: rs267606979 dbSNP
Genome: hg19
Position: chr7:151,257,646-151,257,646
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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