Details for TTC8:c.1253A>G, p.Gln418Arg

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8933870288872358
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE TTC8
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_144596.4
CDNA CHANGE c.1253A>G
PROTEIN CHANGE p.Gln418Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0028840.00024610.00017350.00.00.009240.0043890.0026080.0

ESP
AAEA
0.00068090.002791
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.735023Polymorphism
DBSNP ID rs142938748
1 combination linked to TTC8:c.1253A>G, p.Gln418Arg OLI623
1 disease linked to TTC8:c.1253A>G, p.Gln418Arg Bardet-Biedl syndrome
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