Details for MYO15A:p.Arg1536Leu

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
1803974118136427
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MYO15A
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg1536Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00018070.00.00.00.00.00.00039770.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.522525Disease causing
DBSNP ID NA
1 combination linked to MYO15A:p.Arg1536Leu OLI1477
1 disease linked to MYO15A:p.Arg1536Leu Hypoplastic left heart syndrome

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