Details for MRTFB:c.2010G>C, p.Gln670His

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
1434112714247270
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE MRTFB
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001308142.2
CDNA CHANGE c.2010G>C
PROTEIN CHANGE p.Gln670His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.003654Disease causing
DBSNP ID NA
1 combination linked to MRTFB:c.2010G>C, p.Gln670His OLI606
1 disease linked to MRTFB:c.2010G>C, p.Gln670His Left ventricular noncompaction
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