Variant (rsID / SNP)

rs41303733

rs41303733 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPHN1. Clinical significance in the table: Benign.

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Reference-table entries

OPHN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq12
HGVS: NM_002547.3(OPHN1):c.115G>A (p.Val39Ile)
Allele change: Missense_V39I

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.