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Variant (rsID / SNP)

rs78861628

PROKR2

rs78861628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROKR2. Location: chromosome 20, position 5,283,039. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PROKR2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
20:5283039
Cytoband
20p12.3
HGVS
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys)
Allele change
Missense_R268C

Associated conditions / phenotypes

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.