Details for CCDC141:c.2483G>A, p.Arg828Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179732844178868117
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CCDC141
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_173648
CDNA CHANGE c.2483G>A
PROTEIN CHANGE p.Arg828Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.791e-050.00012312.894e-050.05.45e-050.02.65e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.764236Polymorphism
DBSNP ID NA
1 combination linked to CCDC141:c.2483G>A, p.Arg828Gln OLI1517
1 disease linked to CCDC141:c.2483G>A, p.Arg828Gln 46,XY disorder of sex development
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