Variant (rsID / SNP)

rs397517283

rs397517283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,272,015. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PRKAG2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:151272015
Cytoband: 7q36.1
HGVS: NM_016203.4(PRKAG2):c.967T>A (p.Phe323Ile)
Allele change: Missense_F82I

Associated conditions / phenotypes

Hypertrophic cardiomyopathy

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.