Variant (rsID / SNP)
rs1799999
rs1799999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPP1R3A. Location: chromosome 7, position 113,518,434. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PPP1R3AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:113518434
- Cytoband
- 7q31.1
- HGVS
- NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr)
- Allele change
- Missense_D905Y
Associated conditions / phenotypes
Insulin resistance, susceptibility to|Type 2 diabetes mellitus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.