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Variant (rsID / SNP)

rs202148793

LGI1

rs202148793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LGI1. Location: chromosome 10, position 95,557,041. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LGI1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:95557041
Cytoband
10q23.33
HGVS
NM_005097.4(LGI1):c.1155A>C (p.Leu385=)
Allele change
Synonymous_L385L

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.