Variant (rsID / SNP)
rs202204627
rs202204627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LGI1. Location: chromosome 10, position 95,517,902. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LGI1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:95517902
- Cytoband
- 10q23.33
- HGVS
- NM_005097.4(LGI1):c.1A>G (p.Met1Val)
- Allele change
- Missense_M1V
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.
