Variant #0000629325 (NC_000003.11:g.81754645C>T, GBE1(NM_000158.3):c.263G>A)

Individual ID 00274150
Chromosome 3
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.81754645C>T
DNA change (hg38) g.81705494C>T
Published as -
ISCN -
DB-ID GBE1_000046
Variant remarks -
Reference PubMed: Pronicka 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/113 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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.263G>A r.(?) p.(Cys88Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275305 DNA SEQ;SEQ-NG - WES GBE1 2 Johan den Dunnen