Variant (rsID / SNP)

rs193922360

rs193922360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDX1. Location: chromosome 13, position 28,498,759. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PDX1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:28498759
Cytoband: 13q12.2
HGVS: NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)
Allele change: Missense_E258G

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.