Details for TTN:c.32565_32566insAAG, p.Glu10855_Tyr10856insLys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179544684178679957
VARIANT EFFECT insertion
ANNOTATION FLAG manually_attributed
GENE TTN
REFERENCE ALLELE A
ALTERNATE ALLELE ACTT
TRANSCRIPT NM_001256850.1
CDNA CHANGE c.32565_32566insAAG
PROTEIN CHANGE p.Glu10855_Tyr10856insLys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.706847Polymorphism
DBSNP ID rs1577324587
1 combination linked to TTN:c.32565_32566insAAG, p.Glu10855_Tyr10856insLys OLI231
1 disease linked to TTN:c.32565_32566insAAG, p.Glu10855_Tyr10856insLys Hypertrophic cardiomyopathy
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