Variant (rsID / SNP)

rs137900287

rs137900287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANOS1. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ANOS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp22.31
HGVS: NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu)
Allele change: Missense_V587L

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.