Details for ACP4:c.1199C>A, p.Ala400Asp

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
5129833350795076
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ACP4
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_033068.3
CDNA CHANGE c.1199C>A
PROTEIN CHANGE p.Ala400Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.570536Polymorphism
DBSNP ID NA
1 combination linked to ACP4:c.1199C>A, p.Ala400Asp OLI1735
1 disease linked to ACP4:c.1199C>A, p.Ala400Asp Amelogenesis imperfecta
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