Details for CEP41:c.107C>T, p.Met36Thr

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
130056798130416957
VARIANT EFFECT unknown
ANNOTATION FLAG automatically_attributed
GENE CEP41
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_018718.2
CDNA CHANGE c.107C>T
PROTEIN CHANGE p.Met36Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.962e-056.16e-050.00017350.00.00.00.00014110.00032710.0

ESP
AAEA
0.00022710.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.869035Disease causing
DBSNP ID rs368178632
1 combination linked to CEP41:c.107C>T, p.Met36Thr OLI246
1 disease linked to CEP41:c.107C>T, p.Met36Thr Joubert syndrome
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