Variant #0000116951 (NC_000003.11:g.81691938T>C, GBE1(NM_000158.3):c.986A>G)

Individual ID 00073159
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.81691938T>C
DNA change (hg38) g.81642787T>C
Published as -
ISCN -
DB-ID GBE1_000001 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00045 View details
Owner Claire Guissart
Database submission license No license selected
Created by Claire Guissart
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 +/. 7 c.986A>G r.(?) p.(Tyr329Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073318 DNA SEQ;SEQ-NG-I - - GBE1, WDR81 3 Claire Guissart