Details for MYO15A:p.Glu1499Asp

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
1803903918135725
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MYO15A
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Glu1499Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00079830.00025860.0016810.00.00.00.0011320.0014870.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.687675Polymorphism
DBSNP ID NA
1 combination linked to MYO15A:p.Glu1499Asp OLI1476
1 disease linked to MYO15A:p.Glu1499Asp Hypoplastic left heart syndrome
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