Gene entry
PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2
- Chromosome
- 7
- Cytoband
- 7q36.1
- Variants (rsID)
- 175
PRKAG2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q36.1). Its official name is “protein kinase AMP-activated non-catalytic subunit gamma 2”. The reference table lists 175 variants (rsID) for this gene.
Clinically classified variants
29 reference-table entries with clinical significance.
- rs148197254Benignsingle nucleotide variantCardiomyopathy|Lethal congenital glycogen storage disease of heart|Cardiovascular phenotype|Hypertrophic cardiomyopathy 6|Wolff-Parkinson-White pattern
- rs116541276Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Lethal congenital glycogen storage disease of heart|Cardiomyopathy|Wolff-Parkinson-White pattern|Hypertrophic cardiomyopathy 6
- rs142482217Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 6|Lethal congenital glycogen storage disease of heart|Wolff-Parkinson-White pattern|Cardiomyopathy
- rs144857453Conflicting interpretationssingle nucleotide variantCardiomyopathy|Lethal congenital glycogen storage disease of heart
- rs201878539Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Lethal congenital glycogen storage disease of heart|Cardiomyopathy
- rs267606976Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 6|Cardiomyopathy|Lethal congenital glycogen storage disease of heart
- rs376173303Conflicting interpretationssingle nucleotide variantLethal congenital glycogen storage disease of heart|Cardiomyopathy
- rs376450705Conflicting interpretationssingle nucleotide variantLethal congenital glycogen storage disease of heart|Cardiomyopathy
- rs397517263Conflicting interpretationssingle nucleotide variantWolff-Parkinson-White pattern|Hypertrophic cardiomyopathy 6|Lethal congenital glycogen storage disease of heart|Cardiovascular phenotype|Cardiomyopathy
- rs73160072Conflicting interpretationssingle nucleotide variantFamilial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome|Wolff-Parkinson-White pattern
- rs767613486Conflicting interpretationssingle nucleotide variantHypertrophic cardiomyopathy 6|Wolff-Parkinson-White pattern|Cardiomyopathy|Lethal congenital glycogen storage disease of heart
- rs79474211Conflicting interpretationssingle nucleotide variantPRKAG2 cardiac syndrome|Lethal congenital glycogen storage disease of heart|Cardiovascular phenotype|Hypertrophic cardiomyopathy 6|Wolff-Parkinson-White pattern|Cardiomyopathy|Renal cysts and diabetes syndrome
- rs267606978Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 6|Hypertrophic cardiomyopathy
- rs28938173Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 6|Hypertrophic cardiomyopathy
- rs397517283Likely pathogenicsingle nucleotide variantHypertrophic cardiomyopathy
- rs730880982Likely pathogenicsingle nucleotide variant
- rs121908987Pathogenicsingle nucleotide variantWolff-Parkinson-White pattern|Hypertrophic cardiomyopathy 6|Primary familial hypertrophic cardiomyopathy|Lethal congenital glycogen storage disease of heart|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
- rs121908989Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 6
- rs121908990Pathogenicsingle nucleotide variantWolff-Parkinson-White syndrome, childhood-onset
- rs121908991Pathogenicsingle nucleotide variantLethal congenital glycogen storage disease of heart|Hypertrophic cardiomyopathy
- rs193922697Pathogenicsingle nucleotide variantCardiomyopathy|Hypertrophic cardiomyopathy|Lethal congenital glycogen storage disease of heart
- rs267606977Pathogenicsingle nucleotide variantHypertrophic cardiomyopathy 6|Lethal congenital glycogen storage disease of heart|Hypertrophic cardiomyopathy
- rs587776643PathogenicInsertionHypertrophic cardiomyopathy 6
- rs730882148Pathogenicsingle nucleotide variantLethal congenital glycogen storage disease of heart
- rs121908988Uncertain significancesingle nucleotide variantHypertrophic cardiomyopathy 6
- rs186114650Uncertain significancesingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Cardiomyopathy|Lethal congenital glycogen storage disease of heart
- rs200392688Uncertain significancesingle nucleotide variantCardiomyopathy|Lethal congenital glycogen storage disease of heart
- rs267606979Uncertain significancesingle nucleotide variantHypertrophic cardiomyopathy 6|Lethal congenital glycogen storage disease of heart
- rs730880981Uncertain significancesingle nucleotide variant
Other listed variants
- rs1001116
- rs1104840
- rs1104897
- rs1105842
- rs1860740
- rs1860746
- rs1881625
- rs1881632
- rs1881633
- rs1881635
- rs1881639
- rs2374229
- rs2536085
- rs2538034
- rs2538039
- rs3109944
- rs3789809
- rs3934597
- rs4076142
- rs4128399
- rs4442045
- rs4725435
- rs4726052
- rs4726070
- rs4726075
- rs4726081
- rs4726084
- rs4726086
- rs4726101
- rs4726104
- rs5017429
- rs6945264
- rs6947064
- rs6950343
- rs6951177
- rs6953318
- rs6953882
- rs6961830
- rs6964957
- rs6965926
- rs6967507
- rs6978142
- rs6978479
- rs7780008
- rs7780804
- rs7782177
- rs7789674
- rs7791529
- rs7795096
- rs7796138
- rs7800069
- rs7801616
- rs7802319
- rs7805747
- rs9632641
- rs9640300
- rs9648724
- rs9648727
- rs10224002
- rs10235478
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.