Details for MYH7B:c.2668C>T, p.Arg890Cys

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
3358204634994243
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MYH7B
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_020884.4
CDNA CHANGE c.2668C>T
PROTEIN CHANGE p.Arg890Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00420.00.00580.00.01690.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.010430.002140.0072160.010150.00.021990.014150.013570.001993

ESP
AAEA
0.0029280.01461
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.90001Polymorphism
DBSNP ID rs186471205
1 combination linked to MYH7B:c.2668C>T, p.Arg890Cys OLI123
2 diseases linked to MYH7B:c.2668C>T, p.Arg890Cys Left ventricular noncompaction; Congenital fiber-type disproportion myopathy
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