Details for TTC8:c.717del, p.Lys239AsnfsTer4

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8932356788857223
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TTC8
REFERENCE ALLELE TA
ALTERNATE ALLELE T
TRANSCRIPT NM_198309.2
CDNA CHANGE c.717del
PROTEIN CHANGE p.Lys239AsnfsTer4
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.304821Disease causing
DBSNP ID NA
1 combination linked to TTC8:c.717del, p.Lys239AsnfsTer4 OLI1661
1 disease linked to TTC8:c.717del, p.Lys239AsnfsTer4 Bardet-Biedl syndrome
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