Details for CCDC141:c.2803C>T, p.Arg935Trp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179721046178856319
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CCDC141
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.2803C>T
PROTEIN CHANGE p.Arg935Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.03570.00230.07350.00.10140.0235

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.060320.013450.049040.052170.00010970.072490.086690.072470.02747

ESP
AAEA
0.023390.09016
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.514477Polymorphism
DBSNP ID NA
1 combination linked to CCDC141:c.2803C>T, p.Arg935Trp OLI1213
1 disease linked to CCDC141:c.2803C>T, p.Arg935Trp Kallmann syndrome
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