Variant (rsID / SNP)

rs137852513

rs137852513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANOS1. Clinical significance in the table: Pathogenic.

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Reference-table entries

ANOS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.31
HGVS: NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter)
Allele change: Nonsense_R257X

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 1 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.