Details for MYO7A:c.6247G>A, p.Ala2083Thr

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7692287577211830
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MYO7A
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.6247G>A
PROTEIN CHANGE p.Ala2083Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0004130.00012790.00011590.001790.00.00013950.00034510.00049420.001111

ESP
AAEA
0.00.0002333
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.265013Polymorphism
DBSNP ID NA
1 combination linked to MYO7A:c.6247G>A, p.Ala2083Thr OLI1037
2 diseases linked to MYO7A:c.6247G>A, p.Ala2083Thr Meniere Disease; Atypical hemolytic uremic syndrome
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