Variant (rsID / SNP)

rs36021462

rs36021462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to L1CAM. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

L1CAMConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
Allele change: Missense_V768I

Associated conditions / phenotypes

History of neurodevelopmental disorder|Spastic paraplegia|Hereditary spastic paraplegia

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.