Variant (rsID / SNP)

rs186114650

rs186114650 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,261,273. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PRKAG2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:151261273
Cytoband: 7q36.1
HGVS: NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
Allele change: Missense_I251N

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Lethal congenital glycogen storage disease of heart

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.