Variant (rsID / SNP)

rs121917845

rs121917845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROP1. Location: chromosome 5, position 177,419,809. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PROP1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:177419809
Cytoband: 5q35.3
HGVS: NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)
Allele change: Nonsense_W194X

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.