Details for BBS10:c.164T>C, p.Leu55Pro

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
7674197576348195
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS10
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_024685.4
CDNA CHANGE c.164T>C
PROTEIN CHANGE p.Leu55Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.301045Disease causing
DBSNP ID rs1460517643
1 combination linked to BBS10:c.164T>C, p.Leu55Pro OLI1128
1 disease linked to BBS10:c.164T>C, p.Leu55Pro Bardet-Biedl syndrome
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