Details for TTC8:c.405G>A, p.Met135Ile

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8930745688841112
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE TTC8
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_144596.4
CDNA CHANGE c.405G>A
PROTEIN CHANGE p.Met135Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.245611Disease causing
DBSNP ID NA
1 combination linked to TTC8:c.405G>A, p.Met135Ile OLI145
1 disease linked to TTC8:c.405G>A, p.Met135Ile Bardet-Biedl syndrome
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