Variant (rsID / SNP)

rs104893844

rs104893844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNRHR. Location: chromosome 4, position 68,619,786. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GNRHRPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:68619786
Cytoband: 4q13.2
HGVS: NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys)
Allele change: Missense_E90K

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.