Chr :
chr11
Position :
68906198
Ref Allele :
C
Alt Allele :
G
AAChange refGene :
IGHMBP2:NM_002180:exon2:c.C216G:p.Y72X
UCSC :
chr11-68906198-C-G
OMIM :
IGHMBP2
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 : 23.5
DANN score : 0.967
DANN rankscore : 0.302
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -0.602
Eigen PC raw : -1.05
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.732
integrated fitCons score rankscore : 0.924
integrated confidence value : 0
GERP++ RS : -6.72
GERP++_RS rankscore : 0.016
phyloP100way vertebrate : -1.949
phyloP100way vertebrate rankscore : 0.016
phyloP20way mammalian : -0.837
phyloP20way mammalian rankscore : 0.03
phastCons100way vertebrate : 0
phastCons100way vertebrate rankscore : 0.063
phastCons20way mammalian : 0.002
phastCons20way mammalian rankscore : 0.062
SiPhy 29way logOdds : 8.977
SiPhy 29way logOdds rankscore : 0.349
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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