Details for BBS9:c.1993C>T, p.Leu665Phe

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
3342763433388022
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS9
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001348036.1
CDNA CHANGE c.1993C>T
PROTEIN CHANGE p.Leu665Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00480.01740.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00094260.0120.00092520.00.00.04.396e-050.00081590.0

ESP
AAEA
0.0095320.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.498243Polymorphism
DBSNP ID rs116262072
1 combination linked to BBS9:c.1993C>T, p.Leu665Phe OLI1131
1 disease linked to BBS9:c.1993C>T, p.Leu665Phe Bardet-Biedl syndrome
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