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Variant (rsID / SNP)

rs137852787

PDX1

rs137852787 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDX1. Location: chromosome 13, position 28,498,656. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDX1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:28498656
Cytoband
13q12.2
HGVS
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
Allele change
Missense_E224K

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 4|Monogenic diabetes|Type 2 diabetes mellitus

Public references

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