Details for BBS1:c.71dup, p.Lys24PhefsTer75

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6627850566511034
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS1
REFERENCE ALLELE G
ALTERNATE ALLELE GT
TRANSCRIPT NM_024649.4
CDNA CHANGE c.71dup
PROTEIN CHANGE p.Lys24PhefsTer75
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.552141Disease causing
DBSNP ID NA
1 combination linked to BBS1:c.71dup, p.Lys24PhefsTer75 OLI1667
1 disease linked to BBS1:c.71dup, p.Lys24PhefsTer75 Bardet-Biedl syndrome
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