Variant (rsID / SNP)

rs143713841

rs143713841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPHN1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OPHN1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq12
HGVS: NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
Allele change: Missense_L677M

Associated conditions / phenotypes

History of neurodevelopmental disorder|See cases

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.