Details for BBS1:c.118delT, p.Cys40AlafsTer2

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6627855366511082
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS1
REFERENCE ALLELE CT
ALTERNATE ALLELE C
TRANSCRIPT NM_024649.5
CDNA CHANGE c.118delT
PROTEIN CHANGE p.Cys40AlafsTer2
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.553259Disease causing
DBSNP ID NA
1 combination linked to BBS1:c.118delT, p.Cys40AlafsTer2 OLI1437
1 disease linked to BBS1:c.118delT, p.Cys40AlafsTer2 Bardet-Biedl syndrome
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