chr9:131266934:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr9:131,266,934-131,304,797
hg38 chr9:128,504,655-128,542,518 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Tobacco use disorder NA GAD Detail
<0.001 motor neuron disease Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior... BeFree 25343993 Detail
<0.001 Akinesia Biallelic GLE1 and RYR1 disease-causing variants have been described in other ca... BeFree 24961629 Detail
0.481 Lethal Arthrogryposis With Anterior Horn Cell Disease Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25343993 Detail
<0.001 amyotrophic lateral sclerosis Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotro... BeFree 25343993 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease a... DisGeNET Detail
Biallelic GLE1 and RYR1 disease-causing variants have been described in other cases with fetal akine... DisGeNET Detail
Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease a... DisGeNET Detail
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral scleros... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr9:131,266,934-131,304,797
Variant Type
snv
Genome browser