Variant (rsID / SNP)

rs1800961

rs1800961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF4A. Location: chromosome 20, position 43,042,364. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HNF4ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:43042364
Cytoband: 20q13.12
HGVS: NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)
Allele change: Missense_T117I

Associated conditions / phenotypes

Familial hyperinsulinism|Maturity-onset diabetes of the young type 1|Monogenic diabetes|Type 2 diabetes mellitus

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.