Variant (rsID / SNP)

rs104894765

rs104894765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP15. Clinical significance in the table: Pathogenic.

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Reference-table entries

BMP15Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys)
Allele change: Missense_Y235C

Associated conditions / phenotypes

Ovarian dysgenesis 2

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.