Details for BBS10:c.1527dup, p.Thr510HisfsTer12

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
7674023776346457
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS10
REFERENCE ALLELE T
ALTERNATE ALLELE TG
TRANSCRIPT N.A.
CDNA CHANGE c.1527dup
PROTEIN CHANGE p.Thr510HisfsTer12
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.647342Disease causing
DBSNP ID NA
1 combination linked to BBS10:c.1527dup, p.Thr510HisfsTer12 OLI1668
1 disease linked to BBS10:c.1527dup, p.Thr510HisfsTer12 Bardet-Biedl syndrome
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