Details for BBS10:p.Tyr559Ter

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
7674008876346308
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE BBS10
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Tyr559Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.987e-050.00.00.00.00.07.938e-050.00016350.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.306683Disease causing
DBSNP ID rs375413604
None
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