Gene entry
L1CAM
L1 cell adhesion molecule
- Chromosome
- X
- Cytoband
- Xq28
- Variants (rsID)
- 25
L1CAM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “L1 cell adhesion molecule”. The reference table lists 25 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs144605615Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Spastic paraplegia
- rs7052999Benignsingle nucleotide variant
- rs149737236Conflicting interpretationssingle nucleotide variantHydrocephalus due to aqueductal stenosis|Hereditary spastic paraplegia
- rs200768501Conflicting interpretationssingle nucleotide variantSpastic paraplegia
- rs201057718Conflicting interpretationssingle nucleotide variantHydrocephalus due to aqueductal stenosis
- rs202082978Conflicting interpretationssingle nucleotide variantSpastic paraplegia
- rs36021462Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Spastic paraplegia|Hereditary spastic paraplegia
- rs398123360Conflicting interpretationssingle nucleotide variantSpastic paraplegia
- rs137852520Pathogenicsingle nucleotide variantX-linked hydrocephalus syndrome|Hydrocephalus due to aqueductal stenosis|Spastic paraplegia|L1 syndrome
- rs137852522Pathogenicsingle nucleotide variantX-linked hydrocephalus syndrome|MASA syndrome|Hydrops fetalis|Severe hydrocephalus
- rs137852524Pathogenicsingle nucleotide variantMASA syndrome|X-linked hydrocephalus syndrome|Spastic paraplegia
- rs137852525Pathogenicsingle nucleotide variantHydrocephalus, X-linked, with hirschsprung disease
- rs879253717Pathogenicsingle nucleotide variantHydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction
- rs148516831Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.