Details for BBS1:c.1097T>A, p.Val366Asp

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6629134066523869
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS1
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_024649.5
CDNA CHANGE c.1097T>A
PROTEIN CHANGE p.Val366Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.126078None
DBSNP ID NA
1 combination linked to BBS1:c.1097T>A, p.Val366Asp OLI1436
1 disease linked to BBS1:c.1097T>A, p.Val366Asp Bardet-Biedl syndrome
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