Details for TTN:c.75185A>C,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179427970178563243
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TTN
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_133378.4
CDNA CHANGE c.75185A>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.611e-050.00.00.00.00.03.566e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NonePossibly Damaging2.926447Polymorphism
DBSNP ID NA
1 combination linked to TTN:c.75185A>C, OLI1333
1 disease linked to TTN:c.75185A>C, Primary immunodeficiency
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