Variant (rsID / SNP)
rs142209394
rs142209394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAM2. Location: chromosome 7, position 44,102,399. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PGAM2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:44102399
- Cytoband
- 7p13
- HGVS
- NM_000290.4(PGAM2):c.726C>T (p.Ala242=)
- Allele change
- Synonymous_A242A
Associated conditions / phenotypes
Glycogen storage disease type X
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.