Variant (rsID / SNP)

rs104893843

rs104893843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNRHR. Location: chromosome 4, position 68,620,024. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GNRHRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:68620024
Cytoband: 4q13.2
HGVS: NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)
Allele change: Missense_N10K

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 7 with or without anosmia|Isolated GnRH Deficiency

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.