Details for BBS2:c.823C>T, p.Arg275Ter

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5653670256502790
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_031885.3
CDNA CHANGE c.823C>T
PROTEIN CHANGE p.Arg275Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0001910.00.00.00.00.00064670.00027270.00032633.267e-05

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone8.299774Disease causing
DBSNP ID rs121908177
2 combinations linked to BBS2:c.823C>T, p.Arg275Ter OLI417; OLI922
2 diseases linked to BBS2:c.823C>T, p.Arg275Ter Transposition of the great arteries; Bardet-Biedl syndrome
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