Details for SCRIB:c.2524G>A, p.Gly842Arg

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
144887428143805258
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCRIB
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015356.4
CDNA CHANGE c.2524G>A
PROTEIN CHANGE p.Gly842Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00450.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00015630.0021780.00020840.00.00.00.00.04.555e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.886712Polymorphism
DBSNP ID rs571102571
1 combination linked to SCRIB:c.2524G>A, p.Gly842Arg OLI722
1 disease linked to SCRIB:c.2524G>A, p.Gly842Arg Isolated anencephaly
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