Variant (rsID / SNP)
rs121908987
rs121908987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,273,498. Clinical significance in the table: Pathogenic.
Reference-table entries
PRKAG2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:151273498
- Cytoband
- 7q36.1
- HGVS
- NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
- Allele change
- Missense_R61Q
Associated conditions / phenotypes
Wolff-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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.