Chr :
chr12
Position :
48918323
Ref Allele :
G
Alt Allele :
T
AAChange refGene :
CCDC65:NM_001286957:exon5:c.G229T:p.E77X,CCDC65:NM_033124:exon5:c.G658T:p.E220X
UCSC :
chr12-48918323-G-T
OMIM :
CCDC65
dbSNP :
rs776979382
Gene Function :
exonic
Exonic Function :
stopgain

Clinical annotations are based on clinvar version 2019-03-05.

Disease condition(s) :
-
Clinical significance :
-
SIFT : -
Polyphen2 HDIV : -
Polyphen2 HVAR : -
LRT : Deleterious
MutationTaster : Disease Causing
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : 38
DANN score : 0.996
DANN rankscore : 0.768
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 1.013
Eigen PC raw : 0.823
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.66
integrated fitCons score rankscore : 0.495
integrated confidence value : 0
GERP++ RS : 5.24
GERP++_RS rankscore : 0.728
phyloP100way vertebrate : 7.445
phyloP100way vertebrate rankscore : 0.795
phyloP20way mammalian : 0.951
phyloP20way mammalian rankscore : 0.538
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.996
phastCons20way mammalian rankscore : 0.625
SiPhy 29way logOdds : 17.983
SiPhy 29way logOdds rankscore : 0.89
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2048
  • Homozygous :    0
  • Heterozygous :    1
1000 Genome
All AFR AMR EAS SAS EUR
- - - - - -
gnomAD
All AFR AMR EAS SAS AMI ASJ FIN NFE OTH
- - - - - - - - - -
GME
All NWA NEA AP Israel SD TP CA
- - - - - - - -
Esp6500
All
-

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