Details for BBS1:p.Leu505ProfsTer52

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS1
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Leu505ProfsTer52
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to BBS1:p.Leu505ProfsTer52 OLI1120
1 disease linked to BBS1:p.Leu505ProfsTer52 Bardet-Biedl syndrome
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