Details for BBS5:c.198del, p.Val67SerfsTer11

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
170343633169487123
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS5
REFERENCE ALLELE GA
ALTERNATE ALLELE G
TRANSCRIPT NM_152384.2
CDNA CHANGE c.198del
PROTEIN CHANGE p.Val67SerfsTer11
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.039965Disease causing
DBSNP ID NA
1 combination linked to BBS5:c.198del, p.Val67SerfsTer11 OLI1664
1 disease linked to BBS5:c.198del, p.Val67SerfsTer11 Bardet-Biedl syndrome
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