Details for CC2D2A:c.4340A>C, p.Glu1447Ala

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
1559773315596110
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CC2D2A
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_001080522.2
CDNA CHANGE c.4340A>C
PROTEIN CHANGE p.Glu1447Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.592e-050.00.00.00.00.06.642e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.59389Polymorphism
DBSNP ID rs387907058
1 combination linked to CC2D2A:c.4340A>C, p.Glu1447Ala OLI247
1 disease linked to CC2D2A:c.4340A>C, p.Glu1447Ala Joubert syndrome
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