Details for BBS5:c.620G>A, p.Arg207His

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
170354138169497628
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS5
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_152384.3
CDNA CHANGE c.620G>A
PROTEIN CHANGE p.Arg207His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0050.00080.00860.00.00990.0082

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0065570.0024210.0029310.0034790.0011430.010490.0088410.0050770.006121

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign4.520405Polymorphism
DBSNP ID NA
1 combination linked to BBS5:c.620G>A, p.Arg207His OLI1438
1 disease linked to BBS5:c.620G>A, p.Arg207His Bardet-Biedl syndrome
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