Variant (rsID / SNP)

rs121917840

rs121917840 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROP1. Location: chromosome 5, position 177,420,042. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PROP1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:177420042
Cytoband: 5q35.3
HGVS: NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
Allele change: Missense_F117I

Associated conditions / phenotypes

Pituitary hormone deficiency, combined, 2

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.