Variant (rsID / SNP)

rs398123360

rs398123360 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.1880C>T (p.Thr627Met)
Allele change: Missense_T627M

Associated conditions / phenotypes

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.