Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199644078

PDX1

rs199644078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDX1. Location: chromosome 13, position 28,498,702. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PDX1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:28498702
Cytoband
13q12.2
HGVS
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
Allele change
Missense_P239Q

Associated conditions / phenotypes

Monogenic diabetes|Maturity-onset diabetes of the young type 4|Pancreatic hypoplasia

Public references

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