Details for MYH7:c.2770G>A, p.Glu924Lys

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2389326823424059
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MYH7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000257.3
CDNA CHANGE c.2770G>A
PROTEIN CHANGE p.Glu924Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.320006Disease causing
DBSNP ID rs121913628
1 combination linked to MYH7:c.2770G>A, p.Glu924Lys OLI068
1 disease linked to MYH7:c.2770G>A, p.Glu924Lys Dilated cardiomyopathy
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