Details for BBS10:c.1598_1601delTAAC, p.Leu533fsTer22

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
7674016276346382
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE BBS10
REFERENCE ALLELE CAGTT
ALTERNATE ALLELE C
TRANSCRIPT NM_024685.4
CDNA CHANGE c.1598_1601delTAAC
PROTEIN CHANGE p.Leu533fsTer22
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.958e-060.02.891e-050.00.00.08.801e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.217431Disease causing
DBSNP ID rs770556842
1 combination linked to BBS10:c.1598_1601delTAAC, p.Leu533fsTer22 OLI142
1 disease linked to BBS10:c.1598_1601delTAAC, p.Leu533fsTer22 Bardet-Biedl syndrome
Found any issues with the data on this page? Report this entry.