Variant (rsID / SNP)

rs121909664

rs121909664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FSHR. Location: chromosome 2, position 49,190,326. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FSHRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:49190326
Cytoband: 2p16.3
HGVS: NM_000145.4(FSHR):c.1634T>C (p.Ile545Thr)
Allele change: Missense_I545T

Associated conditions / phenotypes

Ovarian hyperstimulation syndrome

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.