Variant (rsID / SNP)

rs879253717

rs879253717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to L1CAM. Clinical significance in the table: Pathogenic.

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Reference-table entries

L1CAMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter)
Allele change: Nonsense_Q992X

Associated conditions / phenotypes

Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction

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.