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Variant (rsID / SNP)

rs193922477

HNF4A

rs193922477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF4A. Location: chromosome 20, position 43,048,458. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HNF4AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:43048458
Cytoband
20q13.12
HGVS
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)
Allele change
Missense_E256D

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 1|Maturity onset diabetes mellitus in young

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.