Variant (rsID / SNP)

rs121909658

rs121909658 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FSHR. Location: chromosome 2, position 49,210,264. Clinical significance in the table: Pathogenic.

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Reference-table entries

FSHRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:49210264
Cytoband: 2p16.3
HGVS: NM_000145.4(FSHR):c.566C>T (p.Ala189Val)
Allele change: Missense_A189V

Associated conditions / phenotypes

Ovarian dysgenesis 1

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.