Variant (rsID / SNP)

rs201878539

rs201878539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,262,887. 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: 7:151262887
Cytoband: 7q36.1
HGVS: NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
Allele change: Missense_H199Y

Associated conditions / phenotypes

Cardiovascular phenotype|Lethal congenital glycogen storage disease of heart|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.