Variant (rsID / SNP)

rs75498935

rs75498935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDX1. Location: chromosome 13, position 28,498,529. 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: 13:28498529
Cytoband: 13q12.2
HGVS: NM_000209.4(PDX1):c.543C>T (p.Val181=)
Allele change: Synonymous_V181V

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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