Details for MYH7:c.4048G>A, p.Glu1350Lys

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2388754023418331
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MYH7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.4048G>A
PROTEIN CHANGE p.Glu1350Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.3404Disease causing
DBSNP ID NA
1 combination linked to MYH7:c.4048G>A, p.Glu1350Lys OLI976
1 disease linked to MYH7:c.4048G>A, p.Glu1350Lys Left ventricular noncompaction
Found any issues with the data on this page? Report this entry.