Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs139512218

SPRY4

rs139512218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPRY4. Location: chromosome 5, position 141,694,021. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SPRY4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:141694021
Cytoband
5q31.3
HGVS
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)
Allele change
Missense_S218Y

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 17 with or without anosmia|Amenorrhea

Public references

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