Details for SCRIB:c.3131G>A, p.Arg1044Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
144886100143803930
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCRIB
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015356.4
CDNA CHANGE c.3131G>A
PROTEIN CHANGE p.Arg1044Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011257.974e-050.00024520.00.00089510.01.114e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign3.055677Polymorphism
DBSNP ID rs782787420
1 combination linked to SCRIB:c.3131G>A, p.Arg1044Gln OLI507
1 disease linked to SCRIB:c.3131G>A, p.Arg1044Gln Isolated anencephaly
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