Details for FAT4:c.13921C>G, p.Gln4641Glu

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
126411898125490743
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FAT4
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_024582.4
CDNA CHANGE c.13921C>G
PROTEIN CHANGE p.Gln4641Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.763e-050.00.00.00.00.00.00014080.00016310.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.297501Polymorphism
DBSNP ID rs370704263
1 combination linked to FAT4:c.13921C>G, p.Gln4641Glu OLI757
1 disease linked to FAT4:c.13921C>G, p.Gln4641Glu Isolated anencephaly
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