Details for CUBN:c.9340G>A, p.Gly3114Ser

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
1691174916869750
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CUBN
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001081.3
CDNA CHANGE c.9340G>A
PROTEIN CHANGE p.Gly3114Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0020.00080.00.00.0080.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0065780.0014760.00095410.0017860.00065250.0098390.0110.006360.00209

ESP
AAEA
0.00090790.007558
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.591807Polymorphism
DBSNP ID rs117035284
1 combination linked to CUBN:c.9340G>A, p.Gly3114Ser OLI758
1 disease linked to CUBN:c.9340G>A, p.Gly3114Ser Isolated anencephaly
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