Variant (rsID / SNP)

rs193922598

rs193922598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,431,394. 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: 12:121431394
Cytoband: 12q24.31
HGVS: NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
Allele change: Missense_R200W

Associated conditions / phenotypes

Maturity onset diabetes mellitus in young|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.