Gene entry
HNF4A
hepatocyte nuclear factor 4 alpha
- Chromosome
- 20
- Cytoband
- 20q13.12
- Variants (rsID)
- 61
HNF4A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.12). Its official name is “hepatocyte nuclear factor 4 alpha”. The reference table lists 61 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs1800961Benignsingle nucleotide variantFamilial hyperinsulinism|Maturity-onset diabetes of the young type 1|Monogenic diabetes|Type 2 diabetes mellitus
- rs6130615Benignsingle nucleotide variantFamilial hyperinsulinism|Maturity-onset diabetes of the young type 1
- rs137853336Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 1|Maturity-onset diabetes of the young type 1|Type 2 diabetes mellitus|Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- rs142204928Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 1|Familial hyperinsulinism|Type 2 diabetes mellitus
- rs150776703Conflicting interpretationssingle nucleotide variantFamilial hyperinsulinism|Maturity-onset diabetes of the young type 1|Maturity onset diabetes mellitus in young
- rs193922477Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 1|Maturity onset diabetes mellitus in young
- rs193922479Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 1|Hyperinsulinemia|Maturity onset diabetes mellitus in young
- rs41282026Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 1|Familial hyperinsulinism
- rs193922470Likely pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 1
- rs193922475Likely pathogenicDeletionMaturity-onset diabetes of the young type 1
- rs137853337Uncertain significancesingle nucleotide variantType 2 diabetes mellitus
- rs193922472Uncertain significancesingle nucleotide variantMaturity onset diabetes mellitus in young
- rs193922480Uncertain significancesingle nucleotide variant
Other listed variants
- rs1800963
- rs1885088
- rs2071197
- rs2273618
- rs2425634
- rs2425637
- rs2868094
- rs3212183
- rs3212198
- rs3212200
- rs3212208
- rs3746574
- rs3818247
- rs4812829
- rs6017331
- rs6017335
- rs6017339
- rs6031546
- rs6093978
- rs6103716
- rs6103731
- rs7271766
- rs8115651
- rs11574730
- rs73909510
- rs74173201
- rs75884226
- rs76494179
- rs76707818
- rs78513670
- rs112600410
- rs113182233
- rs114391644
- rs116395622
- rs139293959
- rs140102932
- rs143813450
- rs144614833
- rs144985350
- rs146088659
- rs147324010
- rs150924720
- rs191785235
- rs200655531
- rs528427597
- rs536836013
- rs543597757
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.