Variant (rsID / SNP)

rs137853238

rs137853238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,432,068. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HNF1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:121432068
Cytoband: 12q24.31
HGVS: NM_000545.8(HNF1A):c.815G>A (p.Arg272His)
Allele change: Missense_R272H

Associated conditions / phenotypes

Type 1 diabetes mellitus 20|Monogenic diabetes|Maturity onset diabetes mellitus in young|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.