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Variant (rsID / SNP)

rs78310959

SPRY4

rs78310959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPRY4. Location: chromosome 5, position 141,694,213. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPRY4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:141694213
Cytoband
5q31.3
HGVS
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg)
Allele change
Missense_K154R

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 17 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.