Details for TTN:c.6910G>A, p.Val2304Met

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179639081178774354
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TTN
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001256850.1
CDNA CHANGE c.6910G>A
PROTEIN CHANGE p.Val2304Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.983e-066.152e-050.00.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.238858Polymorphism
DBSNP ID rs1412860664
1 combination linked to TTN:c.6910G>A, p.Val2304Met OLI237
1 disease linked to TTN:c.6910G>A, p.Val2304Met Hypertrophic cardiomyopathy
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