Variant (rsID / SNP)

rs137852522

rs137852522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to L1CAM. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

L1CAMPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
Allele change: Missense_S1194L

Associated conditions / phenotypes

X-linked hydrocephalus syndrome|MASA syndrome|Hydrops fetalis|Severe hydrocephalus

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.