Details for CEP41:c.536G>A, p.Arg179His

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
130042527130402686
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE CEP41
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_018718.2
CDNA CHANGE c.536G>A
PROTEIN CHANGE p.Arg179His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.591e-050.00.00.00.00.02.638e-050.03.266e-05

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.178723Disease causing
DBSNP ID rs140259402
1 combination linked to CEP41:c.536G>A, p.Arg179His OLI245
1 disease linked to CEP41:c.536G>A, p.Arg179His Joubert syndrome
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