Details for FAT4:c.10147G>A, p.Gly3383Ser

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
126372318125451163
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FAT4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_024582.4
CDNA CHANGE c.10147G>A
PROTEIN CHANGE p.Gly3383Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.815647Disease causing
DBSNP ID NA
1 combination linked to FAT4:c.10147G>A, p.Gly3383Ser OLI744
1 disease linked to FAT4:c.10147G>A, p.Gly3383Ser Isolated anencephaly
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