Variant (rsID / SNP)
rs138812345
rs138812345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPP1R3A. Location: chromosome 7, position 113,519,930. 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
- 7:113519930
- Cytoband
- 7q31.1
- HGVS
- NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala)
- Allele change
- Missense_E406A
Associated conditions / phenotypes
Monogenic diabetes
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.