Details for BBS1:c.887del, p.Ile296ThrfsTer7

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6629098266523511
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE BBS1
REFERENCE ALLELE AT
ALTERNATE ALLELE A
TRANSCRIPT NM_024649.5
CDNA CHANGE c.887del
PROTEIN CHANGE p.Ile296ThrfsTer7
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.310271Disease causing
DBSNP ID rs794727006
2 combinations linked to BBS1:c.887del, p.Ile296ThrfsTer7 OLI089; OLI1119
1 disease linked to BBS1:c.887del, p.Ile296ThrfsTer7 Bardet-Biedl syndrome
Found any issues with the data on this page? Report this entry.