Variant (rsID / SNP)

rs28933074

rs28933074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNRHR. Location: chromosome 4, position 68,606,334. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GNRHRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:68606334
Cytoband: 4q13.2
HGVS: NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)
Allele change: Missense_Y284C

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 7 with or without anosmia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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