Details for BBS2:c.986T>C, p.Met329Thr

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5653632356502411
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_031885.3
CDNA CHANGE c.986T>C
PROTEIN CHANGE p.Met329Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.58e-050.00.00.00.00.05.278e-050.09.799e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.163764Polymorphism
DBSNP ID rs201146063
1 combination linked to BBS2:c.986T>C, p.Met329Thr OLI325
1 disease linked to BBS2:c.986T>C, p.Met329Thr Bardet-Biedl syndrome
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