Variant (rsID / SNP)

rs193922356

rs193922356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDX1. Location: chromosome 13, position 28,498,557. 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: 13:28498557
Cytoband: 13q12.2
HGVS: NM_000209.4(PDX1):c.571A>C (p.Lys191Gln)
Allele change: Missense_K191Q

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.