Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs104893836

GNRHR

rs104893836 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNRHR. Location: chromosome 4, position 68,619,737. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GNRHRPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
4:68619737
Cytoband
4q13.2
HGVS
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
Allele change
Missense_Q106R

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 7 with or without anosmia|Isolated congenital hypogonadotropic hypogonadism|Gonadotropin deficiency|Infertility

Public references

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