Variant (rsID / SNP)

rs104893838

rs104893838 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNRHR. Location: chromosome 4, position 68,619,668. Clinical significance in the table: Pathogenic.

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Reference-table entries

GNRHRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:68619668
Cytoband: 4q13.2
HGVS: NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp)
Allele change: Missense_A129D

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.