Details for BBS2:c.1928G>A, p.Arg643His

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5651963356485721
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_031885.3
CDNA CHANGE c.1928G>A
PROTEIN CHANGE p.Arg643His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.982e-056.152e-050.00.00.00.04.406e-050.00016349.801e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.916081Disease causing
DBSNP ID rs532361142
1 combination linked to BBS2:c.1928G>A, p.Arg643His OLI125
1 disease linked to BBS2:c.1928G>A, p.Arg643His Bardet-Biedl syndrome
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