Details for BBS2:c.1885G>A, p.Glu629Lys

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5653090456496992
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_031885.3
CDNA CHANGE c.1885G>A
PROTEIN CHANGE p.Glu629Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.579e-050.00.00.00.00.07.914e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.552656Disease causing
DBSNP ID rs746505864
1 combination linked to BBS2:c.1885G>A, p.Glu629Lys OLI176
1 disease linked to BBS2:c.1885G>A, p.Glu629Lys Bardet-Biedl syndrome
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