Details for CUBN:c.8071G>A, p.Gly2691Arg

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
1694345016901451
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CUBN
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001081.3
CDNA CHANGE c.8071G>A
PROTEIN CHANGE p.Gly2691Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00029836.153e-050.00020259.923e-050.00010870.00.00028140.00032570.0009799

ESP
AAEA
0.00.0004651
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.428815Polymorphism
DBSNP ID rs1801237
1 combination linked to CUBN:c.8071G>A, p.Gly2691Arg OLI729
1 disease linked to CUBN:c.8071G>A, p.Gly2691Arg Isolated anencephaly
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