Variant (rsID / SNP)

rs121908991

rs121908991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,257,696. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRKAG2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:151257696
Cytoband: 7q36.1
HGVS: NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
Allele change: Missense_R290Q

Associated conditions / phenotypes

Lethal congenital glycogen storage disease of heart|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.