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Variant (rsID / SNP)

rs193922580

HNF1A

rs193922580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,435,391. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HNF1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:121435391
Cytoband
12q24.31
HGVS
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
Allele change
Missense_P475L

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.