Details for ERG:c.275G>A, p.Cys92Tyr

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
3842354437051244
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ERG
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.275G>A
PROTEIN CHANGE p.Cys92Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to ERG:c.275G>A, p.Cys92Tyr OLI979
1 disease linked to ERG:c.275G>A, p.Cys92Tyr Left ventricular noncompaction
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