Variant (rsID / SNP)

rs121909661

rs121909661 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FSHR. Location: chromosome 2, position 49,190,705. 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: 2:49190705
Cytoband: 2p16.3
HGVS: NM_000145.4(FSHR):c.1255G>A (p.Ala419Thr)
Allele change: Missense_A419T

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.