Details for BBS1:p.Ile330Thr

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6629123266523761
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ile330Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.805826None
DBSNP ID NA
1 combination linked to BBS1:p.Ile330Thr OLI1117
1 disease linked to BBS1:p.Ile330Thr Bardet-Biedl syndrome
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