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Variant (rsID / SNP)

rs116541276

PRKAG2

rs116541276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,267,265. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRKAG2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:151267265
Cytoband
7q36.1
HGVS
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
Allele change
Synonymous_P125P

Associated conditions / phenotypes

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

Public references

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