Variant (rsID / SNP)

rs587780357

rs587780357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,431,404. 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: 12:121431404
Cytoband: 12q24.31
HGVS: NM_000545.8(HNF1A):c.608G>A (p.Arg203His)
Allele change: Missense_R203H

Associated conditions / phenotypes

Diabetes mellitus type 1|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.