Details for BBS10:c.271_272insT, p.Cys91TrpfsTer5

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
7674149476347714
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE BBS10
REFERENCE ALLELE A
ALTERNATE ALLELE AA
TRANSCRIPT NM_024685.4
CDNA CHANGE c.271_272insT
PROTEIN CHANGE p.Cys91TrpfsTer5
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.382077None
DBSNP ID rs549625604
2 combinations linked to BBS10:c.271_272insT, p.Cys91TrpfsTer5 OLI175; OLI176
1 disease linked to BBS10:c.271_272insT, p.Cys91TrpfsTer5 Bardet-Biedl syndrome
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