Details for TTN:c.28269C>G, p.Asn9423Lys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179571381178706654
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TTN
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001256850.1
CDNA CHANGE c.28269C>G
PROTEIN CHANGE p.Asn9423Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.013e-060.00.00.00.00.08.852e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NonePossibly Damaging2.007465Polymorphism
DBSNP ID rs371745586
1 combination linked to TTN:c.28269C>G, p.Asn9423Lys OLI233
1 disease linked to TTN:c.28269C>G, p.Asn9423Lys Hypertrophic cardiomyopathy
Found any issues with the data on this page? Report this entry.