Details for BBS9:c.396G>C, p.Gln132His

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
3321715733177545
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS9
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001348036.1
CDNA CHANGE c.396G>C
PROTEIN CHANGE p.Gln132His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.153e-050.00.00043360.00.00.04.4e-050.00048940.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.392279Disease causing
DBSNP ID rs10255104
1 combination linked to BBS9:c.396G>C, p.Gln132His OLI141
1 disease linked to BBS9:c.396G>C, p.Gln132His Bardet-Biedl syndrome
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