Chr :
chr7
Position :
117665565
Ref Allele :
G
Alt Allele :
A
AAChange refGene :
-
UCSC :
chr7-117665565-G-A
OMIM :
CFTR
dbSNP :
rs372227120
Gene Function :
splicing
Exonic Function :
-

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

Disease condition(s) :
Cystic_fibrosis
Clinical significance :
Pathogenic
SIFT : -
Polyphen2 HDIV : -
Polyphen2 HVAR : -
LRT : -
MutationTaster : Disease Causing
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : 25.9
DANN score : 0.995
DANN rankscore : 0.705
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 1.199
Eigen PC raw : 1.042
GenoCanyon score : 1
GenoCanyon score rankscore : 0.983
integrated fitCons score : 0.085
integrated fitCons score rankscore : 0.017
integrated confidence value : 0
GERP++ RS : 5.46
GERP++_RS rankscore : 0.799
phyloP100way vertebrate : 9.151
phyloP100way vertebrate rankscore : 0.938
phyloP20way mammalian : 1.048
phyloP20way mammalian rankscore : 0.713
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.963
phastCons20way mammalian rankscore : 0.446
SiPhy 29way logOdds : 19.679
SiPhy 29way logOdds rankscore : 0.959
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2050
  • 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