Details for SCN2A:c.1571G>A, p.Arg524Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
166172168165315658
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCN2A
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001040142.1
CDNA CHANGE c.1571G>A
PROTEIN CHANGE p.Arg524Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00013260.00.00.00.0015230.08.995e-060.00.0001307

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.670861Polymorphism
DBSNP ID rs186154973
1 combination linked to SCN2A:c.1571G>A, p.Arg524Gln OLI168
1 disease linked to SCN2A:c.1571G>A, p.Arg524Gln Generalized epilepsy with febrile seizures-plus
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