Details for BBS2:c.1237C>T, p.Arg413Ter

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5653492656501014
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_031885.3
CDNA CHANGE c.1237C>T
PROTEIN CHANGE p.Arg413Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.988e-050.00.00.05.437e-050.02.637e-050.03.266e-05

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.717078Disease causing
DBSNP ID rs147030232
2 combinations linked to BBS2:c.1237C>T, p.Arg413Ter OLI1122; OLI124
1 disease linked to BBS2:c.1237C>T, p.Arg413Ter Bardet-Biedl syndrome
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