Details for SCN1B:c.492T>C, p.Tyr164Tyr

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
3553006435039160
VARIANT EFFECT silent
ANNOTATION FLAG automatically_attributed_and_verified
GENE SCN1B
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001037.4
CDNA CHANGE c.492T>C
PROTEIN CHANGE p.Tyr164Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00.00.0072

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00045730.00.00.00.00.00.00.00065150.003626

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.209518Polymorphism
DBSNP ID rs535042320
1 combination linked to SCN1B:c.492T>C, p.Tyr164Tyr OLI829
1 disease linked to SCN1B:c.492T>C, p.Tyr164Tyr Benign familial infantile epilepsy
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