Variant (rsID / SNP)

rs193922688

rs193922688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROP1. Location: chromosome 5, position 177,421,147. 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: Microsatellite
Chromosome / position: 5:177421147
Cytoband: 5q35.3
HGVS: NM_006261.5(PROP1):c.301_302del (p.Leu102fs)

Associated conditions / phenotypes

Pituitary hormone deficiency, combined, 2|Combined pituitary hormone deficiencies, genetic form|46,XY partial gonadal dysgenesis

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.