Details for CCNF:c.2140G>A, p.Val714Met

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
25068002456799
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CCNF
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001761.2
CDNA CHANGE c.2140G>A
PROTEIN CHANGE p.Val714Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00320.00230.00140.00.01190.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0096440.0028330.0019110.0037830.00.022890.015070.0076820.0006861

ESP
AAEA
0.002730.01465
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.448355Polymorphism
DBSNP ID rs61755288
1 combination linked to CCNF:c.2140G>A, p.Val714Met OLI634
1 disease linked to CCNF:c.2140G>A, p.Val714Met Amyotrophic lateral sclerosis
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