Details for TTC8:c.284A>G, p.Lys95Arg

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8930722788840883
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE TTC8
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_144596.4
CDNA CHANGE c.284A>G
PROTEIN CHANGE p.Lys95Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00720.00.00140.00.0080.0276

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0053690.00049220.0032730.0010925.438e-050.00060070.0041190.0052250.02296

ESP
AAEA
0.00045390.004535
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.035443Polymorphism
DBSNP ID rs150880478
2 combinations linked to TTC8:c.284A>G, p.Lys95Arg OLI146; OLI325
1 disease linked to TTC8:c.284A>G, p.Lys95Arg Bardet-Biedl syndrome
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