Details for BBS2:c.367A>G, p.Ile123Val

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5654517556511263
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_031885.3
CDNA CHANGE c.367A>G
PROTEIN CHANGE p.Ile123Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.26360.24580.27670.41270.17890.2117

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.21470.23230.29520.21470.40510.1760.17070.20490.1925

ESP
AAEA
0.22610.1798
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.655251Polymorphism
DBSNP ID rs11373
2 combinations linked to BBS2:c.367A>G, p.Ile123Val OLI614; OLI616
1 disease linked to BBS2:c.367A>G, p.Ile123Val Bardet-Biedl syndrome
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