Variant (rsID / SNP)

rs193922605

rs193922605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,432,056. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HNF1ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:121432056
Cytoband: 12q24.31
HGVS: NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)
Allele change: Missense_F268S

Associated conditions / phenotypes

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

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.