Details for SCRIB:c.3323G>A, p.Gly1108Glu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
144885908143803738
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCRIB
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_182706.4
CDNA CHANGE c.3323G>A
PROTEIN CHANGE p.Gly1108Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0020.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.054e-050.00.00.00.00028850.00.00.00.0001365

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.671799Disease causing
DBSNP ID rs529610993
2 combinations linked to SCRIB:c.3323G>A, p.Gly1108Glu OLI505; OLI509
1 disease linked to SCRIB:c.3323G>A, p.Gly1108Glu Isolated spina bifida
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