Details for TTN:c.73585G>C, p.Val24529Leu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179429570178564843
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TTN
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_133378.4
CDNA CHANGE c.73585G>C
PROTEIN CHANGE p.Val24529Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.045e-066.476e-050.00.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NonePossibly Damaging2.130732Polymorphism
DBSNP ID NA
1 combination linked to TTN:c.73585G>C, p.Val24529Leu OLI1685
1 disease linked to TTN:c.73585G>C, p.Val24529Leu Non-Syndromic genetic keratoconus
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