Details for MKKS:c.926G>A, p.Arg309His

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
1039323710412589
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MKKS
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_018848.3
CDNA CHANGE c.926G>A
PROTEIN CHANGE p.Arg309His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010750.00.00.0022830.00.02.641e-050.00016330.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.125061Polymorphism
DBSNP ID rs199939179
1 combination linked to MKKS:c.926G>A, p.Arg309His OLI143
1 disease linked to MKKS:c.926G>A, p.Arg309His Bardet-Biedl syndrome
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