Details for FAT4:c.3402A>T, p.Glu1134Asp

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
126240968125319813
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FAT4
REFERENCE ALLELE A
ALTERNATE ALLELE T
TRANSCRIPT NM_001291285.1
CDNA CHANGE c.3402A>T
PROTEIN CHANGE p.Glu1134Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00720.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0018166.457e-050.0011590.012210.04.643e-050.0014220.0016520.003824

ESP
AAEA
0.00.001457
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.448715Polymorphism
DBSNP ID rs144768563
1 combination linked to FAT4:c.3402A>T, p.Glu1134Asp OLI711
1 disease linked to FAT4:c.3402A>T, p.Glu1134Asp Isolated anencephaly
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