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Variant (rsID / SNP)

rs141090506

PROKR2

rs141090506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROKR2. Location: chromosome 20, position 5,294,763. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PROKR2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:5294763
Cytoband
20p12.3
HGVS
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)
Allele change
Missense_R85C

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 3 without anosmia|Hypogonadotropic hypogonadism 3 with or without anosmia

Public references

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