Chr :
chr1
Position :
99861524
Ref Allele :
T
Alt Allele :
G
AAChange refGene :
AGL:NM_000028:exon3:c.T104G:p.L35X,AGL:NM_000642:exon3:c.T104G:p.L35X,AGL:NM_000643:exon3:c.T104G:p.L35X,AGL:NM_000644:exon3:c.T104G:p.L35X,AGL:NM_000646:exon3:c.T56G:p.L19X
UCSC :
chr1-99861524-T-G
OMIM :
AGL
dbSNP :
rs1057516567
Gene Function :
exonic
Exonic Function :
stopgain

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

Disease condition(s) :
Glycogen_storage_disease_type_III
Clinical significance :
Likely_pathogenic
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 : 36
DANN score : 0.989
DANN rankscore : 0.479
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.856
Eigen PC raw : 0.724
GenoCanyon score : 0.999
GenoCanyon score rankscore : 0.388
integrated fitCons score : 0.651
integrated fitCons score rankscore : 0.465
integrated confidence value : 0
GERP++ RS : 4.97
GERP++_RS rankscore : 0.653
phyloP100way vertebrate : 7.963
phyloP100way vertebrate rankscore : 0.874
phyloP20way mammalian : 1.061
phyloP20way mammalian rankscore : 0.807
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.998
phastCons20way mammalian rankscore : 0.697
SiPhy 29way logOdds : 14.651
SiPhy 29way logOdds rankscore : 0.683
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2038
  • 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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