Details for MYO7A:c.4259G>A, p.Arg1420His

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7719446077483415
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MYO7A
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.4259G>A
PROTEIN CHANGE p.Arg1420His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to MYO7A:c.4259G>A, p.Arg1420His OLI1749
1 disease linked to MYO7A:c.4259G>A, p.Arg1420His 46,XY disorder of sex development
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