Details for BBS1:c.1535G>A, p.Arg512His

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6629842666530955
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_024649.4
CDNA CHANGE c.1535G>A
PROTEIN CHANGE p.Arg512His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.362e-050.00.00.00.00010870.09.669e-050.09.799e-05

ESP
AAEA
0.00.0001164
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.889273Disease causing
DBSNP ID rs202205304
1 combination linked to BBS1:c.1535G>A, p.Arg512His OLI147
1 disease linked to BBS1:c.1535G>A, p.Arg512His Bardet-Biedl syndrome
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