Details for BBS12:c.787T>C, p.Tyr263His

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
123663834122742679
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS12
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001178007.2
CDNA CHANGE c.787T>C
PROTEIN CHANGE p.Tyr263His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.774e-050.00061555.782e-050.00.00.00.00.00.0

ESP
AAEA
0.00045390.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.069369Polymorphism
DBSNP ID rs150040166
1 combination linked to BBS12:c.787T>C, p.Tyr263His OLI1128
1 disease linked to BBS12:c.787T>C, p.Tyr263His Bardet-Biedl syndrome
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