Details for SCN5A:c.4868G>A, p.Arg1623Gln

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
3859299538551504
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SCN5A
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_198056.2
CDNA CHANGE c.4868G>A
PROTEIN CHANGE p.Arg1623Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.403777Disease causing
DBSNP ID rs137854600
1 combination linked to SCN5A:c.4868G>A, p.Arg1623Gln OLI1228
1 disease linked to SCN5A:c.4868G>A, p.Arg1623Gln Familial long QT syndrome
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