Chr :
chr6
Position :
129316041
Ref Allele :
G
Alt Allele :
T
AAChange refGene :
LAMA2:NM_000426:exon27:c.G3928T:p.E1310X,LAMA2:NM_001079823:exon27:c.G3928T:p.E1310X
UCSC :
chr6-129316041-G-T
OMIM :
LAMA2
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 : 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 : 39
DANN score : 0.998
DANN rankscore : 0.865
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.55
Eigen PC raw : 0.388
GenoCanyon score : 0.243
GenoCanyon score rankscore : 0.186
integrated fitCons score : 0.554
integrated fitCons score rankscore : 0.283
integrated confidence value : 0
GERP++ RS : 3.63
GERP++_RS rankscore : 0.406
phyloP100way vertebrate : 6.199
phyloP100way vertebrate rankscore : 0.718
phyloP20way mammalian : 0.142
phyloP20way mammalian rankscore : 0.226
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.998
phastCons20way mammalian rankscore : 0.697
SiPhy 29way logOdds : 12.308
SiPhy 29way logOdds rankscore : 0.541
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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