Variant (rsID / SNP)
rs786205228
rs786205228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPP2R1A. Location: chromosome 19, position 52,715,971. Clinical significance in the table: Pathogenic.
Reference-table entries
PPP2R1APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:52715971
- Cytoband
- 19q13.41
- HGVS
- NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu)
- Allele change
- Silent
Associated conditions / phenotypes
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|PPP2R1A-related neurodevelopmental disorders|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.