Details for BBS2:c.1895G>C, p.Arg632Pro

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5653089456496982
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_031885.3
CDNA CHANGE c.1895G>C
PROTEIN CHANGE p.Arg632Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011530.00.00.0025790.04.619e-058.792e-060.00016290.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.561379Disease causing
DBSNP ID rs138043021
2 combinations linked to BBS2:c.1895G>C, p.Arg632Pro OLI098; OLI144
1 disease linked to BBS2:c.1895G>C, p.Arg632Pro Bardet-Biedl syndrome
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