Details for BBS10:c.271dup, p.Cys91fs

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7674149376514367
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS10
REFERENCE ALLELE C
ALTERNATE ALLELE CA
TRANSCRIPT N.A.
CDNA CHANGE c.271dup
PROTEIN CHANGE p.Cys91fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to BBS10:c.271dup, p.Cys91fs OLI923
1 disease linked to BBS10:c.271dup, p.Cys91fs Transposition of the great arteries
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