Variant (rsID / SNP)

rs121917839

rs121917839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROP1. Location: chromosome 5, position 177,420,033. 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: 5:177420033
Cytoband: 5q35.3
HGVS: NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
Allele change: Missense_R120C

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.