Details for BBS1:p.Leu548fsTer579

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT frameshift
ANNOTATION FLAG not_found_in_databases
GENE BBS1
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Leu548fsTer579
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to BBS1:p.Leu548fsTer579 OLI066
1 disease linked to BBS1:p.Leu548fsTer579 Bardet-Biedl syndrome
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