Variant (rsID / SNP)

rs151310594

rs151310594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPP1R3A. Location: chromosome 7, position 113,518,880. Clinical significance in the table: Likely benign.

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Reference-table entries

PPP1R3ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:113518880
Cytoband: 7q31.1
HGVS: NM_002711.4(PPP1R3A):c.2267C>T (p.Pro756Leu)
Allele change: Missense_P756L

Associated conditions / phenotypes

Monogenic diabetes

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.