Variant (rsID / SNP)

rs104894767

rs104894767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP15. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BMP15Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_005448.2(BMP15):c.538G>A (p.Ala180Thr)
Allele change: Missense_A180T

Associated conditions / phenotypes

Premature ovarian failure 4|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.