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Variant (rsID / SNP)

rs137853336

HNF4A

rs137853336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF4A. Location: chromosome 20, position 43,042,354. 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
20:43042354
Cytoband
20q13.12
HGVS
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
Allele change
Missense_R114W

Associated conditions / phenotypes

Maturity-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

Public references

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