Details for CUBN:c.7646C>T, p.Thr2549Met

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
1694956616907567
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CUBN
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001081.3
CDNA CHANGE c.7646C>T
PROTEIN CHANGE p.Thr2549Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.35e-056.152e-055.782e-050.00.00.00.00012310.00.0001307

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.868975Polymorphism
DBSNP ID rs537292240
1 combination linked to CUBN:c.7646C>T, p.Thr2549Met OLI726
1 disease linked to CUBN:c.7646C>T, p.Thr2549Met Isolated anencephaly
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