Variant #0000714824 (NC_000003.11:g.(?_81538850)_(81539615_81548260)del, GBE1(NM_000158.3):c.(2052+1_2053-1)_*708{0})

Individual ID 00329076
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_81538850)_(81539615_81548260)del
DNA change (hg38) -
Published as E16 del
ISCN -
DB-ID GBE1_000052
Variant remarks -
Reference PubMed: Wang 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 +/. - c.(2052+1_2053-1)_*708{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000330293 DNA SEQ - - GBE1 1 LOVD