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Variant (rsID / SNP)

rs114137271

SCN1A

rs114137271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,904,176. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:166904176
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
Allele change
Synonymous_R377R

Associated conditions / phenotypes

Epilepsy|Migraine, familial hemiplegic, 3|History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts|Generalized epilepsy with febrile seizures plus, type 2

Public references

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