Details for TTC8:c.889A>G, p.Asn297Asp

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8933641288870068
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TTC8
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.889A>G
PROTEIN CHANGE p.Asn297Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.486007Polymorphism
DBSNP ID NA
1 combination linked to TTC8:c.889A>G, p.Asn297Asp OLI1146
1 disease linked to TTC8:c.889A>G, p.Asn297Asp Bardet-Biedl syndrome
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