Variant (rsID / SNP)
rs200768501
rs200768501 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.
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.1107C>T (p.Asn369=)
- Allele change
- Synonymous_N369N
Associated conditions / phenotypes
Spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.