Chr :
chr1
Position :
209788590
Ref Allele :
G
Alt Allele :
A
AAChange refGene :
IRF6:NM_001206696:exon7:c.C949T:p.R317X,IRF6:NM_006147:exon9:c.C1234T:p.R412X
UCSC :
chr1-209788590-G-A
OMIM :
IRF6
dbSNP :
-
Gene Function :
exonic
Exonic Function :
stopgain

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

Disease condition(s) :
Popliteal_pterygium_syndrome|Orofacial_cleft_6,_susceptibility_to|Van_der_Woude_syndrome
Clinical significance :
Pathogenic
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 : 43
DANN score : 0.997
DANN rankscore : 0.831
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 1.145
Eigen PC raw : 0.998
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.706
integrated fitCons score rankscore : 0.609
integrated confidence value : 0
GERP++ RS : 5.45
GERP++_RS rankscore : 0.796
phyloP100way vertebrate : 6.148
phyloP100way vertebrate rankscore : 0.714
phyloP20way mammalian : 0.953
phyloP20way mammalian rankscore : 0.551
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.999
phastCons20way mammalian rankscore : 0.75
SiPhy 29way logOdds : 19.299
SiPhy 29way logOdds rankscore : 0.941
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
-

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