Variant (rsID / SNP)

rs115080759

rs115080759 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,434,401. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HNF1ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:121434401
Cytoband: 12q24.31
HGVS: NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
Allele change: Missense_L389V

Associated conditions / phenotypes

Monogenic diabetes|Maturity-onset diabetes of the young type 3

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.