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Variant (rsID / SNP)

rs142482217

PRKAG2

rs142482217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,478,464. 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
7:151478464
Cytoband
7q36.1
HGVS
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
Allele change
Synonymous_G36G

Associated conditions / phenotypes

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

Public references

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