Variant (rsID / SNP)
rs376450705
rs376450705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,257,644. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PRKAG2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:151257644
- Cytoband
- 7q36.1
- HGVS
- NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
- Allele change
- Synonymous_S307S
Associated conditions / phenotypes
Lethal congenital glycogen storage disease of heart|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.