Details for BBS2:c.814C>T, p.Arg272Ter

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5653671156502799
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_031885.3
CDNA CHANGE c.814C>T
PROTEIN CHANGE p.Arg272Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.592e-050.00.09.929e-050.00.02.64e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.391642Disease causing
DBSNP ID rs764164384
1 combination linked to BBS2:c.814C>T, p.Arg272Ter OLI322
1 disease linked to BBS2:c.814C>T, p.Arg272Ter Bardet-Biedl syndrome

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