Details for CCDC141:c.4219C>A, p.Gln1407Lys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179701727178837000
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE CCDC141
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_173648.4
CDNA CHANGE c.4219C>A
PROTEIN CHANGE p.Gln1407Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.399e-056.26e-050.00.00.00081820.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.286095Polymorphism
DBSNP ID rs186697492
1 combination linked to CCDC141:c.4219C>A, p.Gln1407Lys OLI353
1 disease linked to CCDC141:c.4219C>A, p.Gln1407Lys Kallmann syndrome
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