Details for BBS9:c.2349C>A, p.Cys783Ter

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
3357361633534004
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS9
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_198428.3
CDNA CHANGE c.2349C>A
PROTEIN CHANGE p.Cys783Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone8.196608Disease causing
DBSNP ID NA
1 combination linked to BBS9:c.2349C>A, p.Cys783Ter OLI1452
1 disease linked to BBS9:c.2349C>A, p.Cys783Ter Bardet-Biedl syndrome
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