Chr :
chr13
Position :
38690828
Ref Allele :
C
Alt Allele :
T
AAChange refGene :
FREM2:NM_207361:exon1:c.C3484T:p.R1162X
UCSC :
chr13-38690828-C-T
OMIM :
FREM2
dbSNP :
rs761934962
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 Automatic
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : 34
DANN score : 0.993
DANN rankscore : 0.569
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -0.108
Eigen PC raw : -0.405
GenoCanyon score : 0.988
GenoCanyon score rankscore : 0.314
integrated fitCons score : 0.732
integrated fitCons score rankscore : 0.924
integrated confidence value : 0
GERP++ RS : -0.141
GERP++_RS rankscore : 0.127
phyloP100way vertebrate : -0.008
phyloP100way vertebrate rankscore : 0.126
phyloP20way mammalian : -0.374
phyloP20way mammalian rankscore : 0.066
phastCons100way vertebrate : 0.002
phastCons100way vertebrate rankscore : 0.151
phastCons20way mammalian : 0.968
phastCons20way mammalian rankscore : 0.456
SiPhy 29way logOdds : 21.163
SiPhy 29way logOdds rankscore : 0.999
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2052
  • 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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