Details for MYO7A:c.4635G>A, p.Trp1545Ter

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7691064677199601
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MYO7A
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.4635G>A
PROTEIN CHANGE p.Trp1545Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone8.461039Polymorphism
DBSNP ID NA
1 combination linked to MYO7A:c.4635G>A, p.Trp1545Ter OLI1036
2 diseases linked to MYO7A:c.4635G>A, p.Trp1545Ter Meniere Disease; Atypical hemolytic uremic syndrome

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