Details for SCRIB:c.1931G>T, p.Gly644Val

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
144890963143808793
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCRIB
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_015356.4
CDNA CHANGE c.1931G>T
PROTEIN CHANGE p.Gly644Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.0040.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00012650.05.83e-050.00.0015290.00.00.00016670.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.256794Polymorphism
DBSNP ID rs201104891
1 combination linked to SCRIB:c.1931G>T, p.Gly644Val OLI510
1 disease linked to SCRIB:c.1931G>T, p.Gly644Val Isolated spina bifida
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