Variant (rsID / SNP)

rs146385147

rs146385147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLIN1. Location: chromosome 15, position 90,210,237. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLIN1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:90210237
Cytoband: 15q26.1
HGVS: NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val)
Allele change: Missense_A380V

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.