Variant (rsID / SNP)

rs114823607

rs114823607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP15. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BMP15Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_005448.2(BMP15):c.443T>C (p.Leu148Pro)
Allele change: Missense_L148P

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.