Details for TTC8:c.589_594del, p.187_188delGluTyr

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
8931015788843813
VARIANT EFFECT deletion
ANNOTATION FLAG manually_attributed
GENE TTC8
REFERENCE ALLELE TTGAGTA
ALTERNATE ALLELE T
TRANSCRIPT NM_144596.4
CDNA CHANGE c.589_594del
PROTEIN CHANGE p.187_188delGluTyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.243788Disease causing
DBSNP ID rs587777806
1 combination linked to TTC8:c.589_594del, p.187_188delGluTyr OLI059
1 disease linked to TTC8:c.589_594del, p.187_188delGluTyr Bardet-Biedl syndrome
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