Details for BBS10:p.Val707TerfsTer1

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS10
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Val707TerfsTer1
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to BBS10:p.Val707TerfsTer1 OLI1125
1 disease linked to BBS10:p.Val707TerfsTer1 Bardet-Biedl syndrome
Found any issues with the data on this page? Report this entry.