Details for AGRN:c.874T>C, p.Tyr292His

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
9766991041319
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AGRN
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.874T>C
PROTEIN CHANGE p.Tyr292His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.744823Polymorphism
DBSNP ID NA
1 combination linked to AGRN:c.874T>C, p.Tyr292His OLI1308
1 disease linked to AGRN:c.874T>C, p.Tyr292His Catecholaminergic polymorphic ventricular tachycardia

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