Variant (rsID / SNP)

rs137853245

rs137853245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,432,080. Clinical significance in the table: Pathogenic.

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Reference-table entries

HNF1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:121432080
Cytoband: 12q24.31
HGVS: NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)
Allele change: Missense_A276D

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 3|Monogenic diabetes|Hyperinsulinism due to HNF1A deficiency

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.