Variant (rsID / SNP)

rs193922604

rs193922604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,432,043. 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: 12:121432043
Cytoband: 12q24.31
HGVS: NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)
Allele change: Missense_V264F

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.