Variant (rsID / SNP)

rs193922584

rs193922584 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,437,108. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HNF1ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:121437108
Cytoband: 12q24.31
HGVS: NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
Allele change: Synonymous_T513T

Associated conditions / phenotypes

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.