Variant (rsID / SNP)

rs386833510

rs386833510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FSHR. Location: chromosome 2, position 49,190,917. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

FSHRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:49190917
Cytoband: 2p16.3
HGVS: NM_000145.4(FSHR):c.1043C>G (p.Pro348Arg)
Allele change: Missense_P348R

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.