Variant (rsID / SNP)

rs148197254

rs148197254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,257,695. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PRKAG2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:151257695
Cytoband: 7q36.1
HGVS: NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
Allele change: Synonymous_R290R

Associated conditions / phenotypes

Cardiomyopathy|Lethal congenital glycogen storage disease of heart|Cardiovascular phenotype|Hypertrophic cardiomyopathy 6|Wolff-Parkinson-White pattern

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.