Details for RBM20:c.2062C>T, p.Arg688Ter

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
112572217110812459
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE RBM20
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001134363.2
CDNA CHANGE c.2062C>T
PROTEIN CHANGE p.Arg688Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.12854Disease causing
DBSNP ID rs794729150
1 combination linked to RBM20:c.2062C>T, p.Arg688Ter OLI235
1 disease linked to RBM20:c.2062C>T, p.Arg688Ter Dilated cardiomyopathy
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