Details for CUBN:c.8279T>C, p.Ile2760Thr

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
1694275516900756
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CUBN
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001081.3
CDNA CHANGE c.8279T>C
PROTEIN CHANGE p.Ile2760Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.00.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00048940.0001230.00.00069490.00.05.279e-050.0001630.003495

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.818986Polymorphism
DBSNP ID rs538864199
1 combination linked to CUBN:c.8279T>C, p.Ile2760Thr OLI714
1 disease linked to CUBN:c.8279T>C, p.Ile2760Thr Isolated anencephaly
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