Details for BBS5:c.584A>G, p.Asp195Gly

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
170350312169493802
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS5
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_152384.2
CDNA CHANGE c.584A>G
PROTEIN CHANGE p.Asp195Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00240.00.01730.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0063410.00073920.044770.00.00.06.162e-050.0044050.0

ESP
AAEA
0.0002270.000349
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.386821Polymorphism
DBSNP ID rs143191074
1 combination linked to BBS5:c.584A>G, p.Asp195Gly OLI617
1 disease linked to BBS5:c.584A>G, p.Asp195Gly Bardet-Biedl syndrome
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