Genomic variant #0000066295

Individual ID 00038399
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.131271264C>A
DNA change (hg38) g.128508985C>A
Published as -
ISCN -
DB-ID GLE1_000005
Variant remarks One patient with ALS (het)
Reference PubMed: Kaneb et al. 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 0/960 controls
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Function/GVS     
GLE1 NM_001003722.1 +/+ 1 c.209C>A - r.(?) p.(Ser70*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038633 DNA SEQ - - GLE1 1 Anne Polvi