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Variant (rsID / SNP)

rs376239580

PROKR2

rs376239580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROKR2. Location: chromosome 20, position 5,283,278. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PROKR2Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:5283278
Cytoband
20p12.3
HGVS
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)
Allele change
Missense_S188L

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 7 with or 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.