Variant (rsID / SNP)

rs199771303

rs199771303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANOS1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ANOS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.31
HGVS: NM_000216.4(ANOS1):c.2015A>G (p.His672Arg)
Allele change: Missense_H672R

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 1 with or without anosmia|Amenorrhea

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.