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Variant (rsID / SNP)

rs147522594

SCN2A

rs147522594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,243,269. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:166243269
Cytoband
2q24.3
HGVS
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
Allele change
Missense_G1522A

Associated conditions / phenotypes

Seizures, benign familial infantile, 3|History of neurodevelopmental disorder|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|Episodic ataxia, type 9

Public references

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