Details for BBS10:c.765G>A, p.Met255Ile

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
7674100076347220
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS10
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_024685.3
CDNA CHANGE c.765G>A
PROTEIN CHANGE p.Met255Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00059790.00067740.00043410.00.00.00030470.00095970.00065380.0001308

ESP
AAEA
0.00090790.0005814
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.476005Polymorphism
DBSNP ID rs139658279
2 combinations linked to BBS10:c.765G>A, p.Met255Ile OLI172; OLI324
1 disease linked to BBS10:c.765G>A, p.Met255Ile Bardet-Biedl syndrome
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