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Variant (rsID / SNP)

rs137853100

PROP1

rs137853100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROP1. Location: chromosome 5, position 177,421,153. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PROP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:177421153
Cytoband
5q35.3
HGVS
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
Allele change
Missense_R99Q

Associated conditions / phenotypes

Pituitary hormone deficiency, combined, 2|Inborn genetic diseases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.