Details for TTN:c.40485G>T, p.Lys13495Asn

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179486037178621310
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TTN
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_001256850.1
CDNA CHANGE c.40485G>T
PROTEIN CHANGE p.Lys13495Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00220.00.00140.00.0080.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0051130.0014940.0021340.0029990.00.0083550.0077920.0058820.001707

ESP
AAEA
0.00054820.008591
PREDICTORS
siftpp2 hvarcaddmutationtaster
NonePossibly Damaging2.370112Polymorphism
DBSNP ID rs72677225
1 combination linked to TTN:c.40485G>T, p.Lys13495Asn OLI237
1 disease linked to TTN:c.40485G>T, p.Lys13495Asn Hypertrophic cardiomyopathy
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