Details for UNC13A:c.892C>T, p.Arg298Trp

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
1776708317656274
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE UNC13A
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001080421.2
CDNA CHANGE c.892C>T
PROTEIN CHANGE p.Arg298Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00031070.00.00.00035159.136e-050.0007180.00052040.00022580.0

ESP
AAEA
0.00.0003676
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.372633Polymorphism
DBSNP ID rs201739401
1 combination linked to UNC13A:c.892C>T, p.Arg298Trp OLI330
1 disease linked to UNC13A:c.892C>T, p.Arg298Trp Amyotrophic lateral sclerosis
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