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Variant (rsID / SNP)

rs104893837

GNRHR

rs104893837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNRHR. Location: chromosome 4, position 68,606,400. 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
4:68606400
Cytoband
4q13.2
HGVS
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)
Allele change
Missense_R262Q

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 7 with or without anosmia|Amenorrhea|Hypogonadotropic hypogonadism

Public references

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