Details for TTN:c.91524G>C, p.Glu30508Asp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179403328178538601
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TTN
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_133378.4
CDNA CHANGE c.91524G>C
PROTEIN CHANGE p.Glu30508Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneDamaging2.114549Disease causing
DBSNP ID NA
1 combination linked to TTN:c.91524G>C, p.Glu30508Asp OLI1677
1 disease linked to TTN:c.91524G>C, p.Glu30508Asp Non-Syndromic genetic keratoconus
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