Details for BBS10:c.886G>A, p.Ala296Thr

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
7674087976347099
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS10
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_024685.4
CDNA CHANGE c.886G>A
PROTEIN CHANGE p.Ala296Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00036370.00024650.00014480.00.04.792e-050.00068770.00049070.0

ESP
AAEA
0.0002270.000814
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.503971Polymorphism
DBSNP ID rs150587582
1 combination linked to BBS10:c.886G>A, p.Ala296Thr OLI1118
1 disease linked to BBS10:c.886G>A, p.Ala296Thr Bardet-Biedl syndrome
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