Details for EVC:c.1694delC, p.Ala565ValfsTer23

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
57854085783681
VARIANT EFFECT frameshift
ANNOTATION FLAG None
GENE EVC
REFERENCE ALLELE GC
ALTERNATE ALLELE G
TRANSCRIPT NM_153717.3
CDNA CHANGE c.1694delC
PROTEIN CHANGE p.Ala565ValfsTer23
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneDisease causing
DBSNP ID NA
1 combination linked to EVC:c.1694delC, p.Ala565ValfsTer23 OLI1245
1 disease linked to EVC:c.1694delC, p.Ala565ValfsTer23 Hypodontia
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