Variant (rsID / SNP)
rs144857453
rs144857453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,483,612. 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
- 7:151483612
- Cytoband
- 7q36.1
- HGVS
- NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
- Allele change
- Silent
Associated conditions / phenotypes
Cardiomyopathy|Lethal congenital glycogen storage disease of heart
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.