Chr :
chr6
Position :
116617083
Ref Allele :
C
Alt Allele :
T
AAChange refGene :
RSPH4A:NM_001010892:exon1:c.C460T:p.Q154X,RSPH4A:NM_001161664:exon1:c.C460T:p.Q154X
UCSC :
chr6-116617083-C-T
OMIM :
RSPH4A
dbSNP :
rs118204041
Gene Function :
exonic
Exonic Function :
stopgain

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

Disease condition(s) :
Ciliary_dyskinesia|Ciliary_dyskinesia,_primary,_11
Clinical significance :
Pathogenic
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 : 34
DANN score : 0.997
DANN rankscore : 0.829
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : 0.428
Eigen PC raw : 0.11
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.496
integrated fitCons score rankscore : 0.176
integrated confidence value : 0
GERP++ RS : 4.67
GERP++_RS rankscore : 0.579
phyloP100way vertebrate : 2.201
phyloP100way vertebrate rankscore : 0.421
phyloP20way mammalian : 0.935
phyloP20way mammalian rankscore : 0.49
phastCons100way vertebrate : 0.016
phastCons100way vertebrate rankscore : 0.191
phastCons20way mammalian : 0.007
phastCons20way mammalian rankscore : 0.1
SiPhy 29way logOdds : 9.956
SiPhy 29way logOdds rankscore : 0.406
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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