Variant (rsID / SNP)

rs587776643

rs587776643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,269,750. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRKAG2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Insertion
Chromosome / position: 7:151269750
Cytoband: 7q36.1
HGVS: NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Arg350_Glu351insLeu)

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 6

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.