Details for BBS4:c.1463C>A, p.Thr488Lys

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
7302983172737490
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS4
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_033028.5
CDNA CHANGE c.1463C>A
PROTEIN CHANGE p.Thr488Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.00.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00051920.02.923e-050.00.00.08.881e-060.00016460.004209

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.39646Polymorphism
DBSNP ID rs561284402
1 combination linked to BBS4:c.1463C>A, p.Thr488Lys OLI1130
1 disease linked to BBS4:c.1463C>A, p.Thr488Lys Bardet-Biedl syndrome
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