Details for BBS1:c.837del, p.Lys280SerfsTer9

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6629093166523460
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS1
REFERENCE ALLELE TC
ALTERNATE ALLELE T
TRANSCRIPT NM_024649.5
CDNA CHANGE c.837del
PROTEIN CHANGE p.Lys280SerfsTer9
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.586541Polymorphism
DBSNP ID NA
1 combination linked to BBS1:c.837del, p.Lys280SerfsTer9 OLI1444
1 disease linked to BBS1:c.837del, p.Lys280SerfsTer9 Bardet-Biedl syndrome
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