Variant (rsID / SNP)
rs41282026
rs41282026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF4A. Location: chromosome 20, position 43,034,732. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HNF4AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:43034732
- Cytoband
- 20q13.12
- HGVS
- NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
- Allele change
- Synonymous_A28A
Associated conditions / phenotypes
Maturity-onset diabetes of the young type 1|Familial hyperinsulinism
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
