Details for BBS10:c.271dup, p.Cys91LeufsTer5

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
7674149376347713
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE BBS10
REFERENCE ALLELE C
ALTERNATE ALLELE CA
TRANSCRIPT NM_024685.4
CDNA CHANGE c.271dup
PROTEIN CHANGE p.Cys91LeufsTer5
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0005790.00030925.817e-050.00.04.968e-050.0010520.00082320.0003931

ESP
AAEA
0.00070360.001212
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.432269Disease causing
DBSNP ID rs549625604
2 combinations linked to BBS10:c.271dup, p.Cys91LeufsTer5 OLI084; OLI085
2 diseases linked to BBS10:c.271dup, p.Cys91LeufsTer5 Alström syndrome; Bardet-Biedl syndrome
Found any issues with the data on this page? Report this entry.