Details for TTN:c.9359G>A, p.Arg3120Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179632598178767871
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TTN
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001256850.1
CDNA CHANGE c.9359G>A
PROTEIN CHANGE p.Arg3120Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00080.00.00.0020.0051

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0041030.00061530.00063650.0011920.00.009660.0054830.002940.004476

ESP
AAEA
0.00090790.004419
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.765379Polymorphism
DBSNP ID rs72647894
2 combinations linked to TTN:c.9359G>A, p.Arg3120Gln OLI232; OLI236
3 diseases linked to TTN:c.9359G>A, p.Arg3120Gln Left ventricular noncompaction; Dilated cardiomyopathy; Rubinstein-Taybi syndrome
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