Variant (rsID / SNP)

rs119488099

rs119488099 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LGI1. Location: chromosome 10, position 95,537,349. Clinical significance in the table: Pathogenic.

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Reference-table entries

LGI1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:95537349
Cytoband: 10q23.33
HGVS: NM_005097.4(LGI1):c.406C>T (p.Arg136Trp)
Allele change: Missense_R136W

Associated conditions / phenotypes

Epilepsy, familial temporal lobe, 1|Autosomal dominant epilepsy with auditory features

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.