Chr :
chr3
Position :
180663926
Ref Allele :
G
Alt Allele :
A
AAChange refGene :
CCDC39:NM_181426:exon2:c.C151T:p.R51X
UCSC :
chr3-180663926-G-A
OMIM :
CCDC39
dbSNP :
-
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 : Neutral
MutationTaster : Disease Causing Automatic
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : 36
DANN score : 0.998
DANN rankscore : 0.861
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.595
Eigen PC raw : 0.435
GenoCanyon score : 0.019
GenoCanyon score rankscore : 0.132
integrated fitCons score : 0.554
integrated fitCons score rankscore : 0.246
integrated confidence value : 0
GERP++ RS : 4.09
GERP++_RS rankscore : 0.469
phyloP100way vertebrate : 1.704
phyloP100way vertebrate rankscore : 0.372
phyloP20way mammalian : 0.065
phyloP20way mammalian rankscore : 0.171
phastCons100way vertebrate : 0.979
phastCons100way vertebrate rankscore : 0.349
phastCons20way mammalian : 0.99
phastCons20way mammalian rankscore : 0.544
SiPhy 29way logOdds : 14.222
SiPhy 29way logOdds rankscore : 0.652
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2046
  • 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
-

If you would like to be updated on the classification of the variant as per the ACMG & AMP guidelines, please access and share the phenotypes after login.

LogIn/Register
Disclaimer:

This resource is intended for purely research purposes. It should not be used for emergencies or medical or professional advice.

This website does not provide any medical or healthcare products, services or advice, and is not for medical emergencies or urgent situations. Information contained on this website is not a substitute for a doctor's medical judgment or advice. We recommend that you discuss your specific, individual health concerns with your doctor or health care professional.
Commercial use of the resource would require licensing. For more information, contact CSIR-IGIB Business Development and Management Group at s.sivasubbu@igib.res.in