Variant #0000578330 (NC_000003.11:g.81698005A>G, GBE1(NM_000158.3):c.691+2T>C)

Individual ID 00248435
Chromosome 3
Allele Paternal (confirmed)
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.81698005A>G
DNA change (hg38) g.81648854A>G
Published as -
ISCN -
DB-ID GBE1_000027 See all 9 reported entries
Variant remarks -
Reference PubMed: Ravenscroft 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00086 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 +/. - c.691+2T>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249539 DNA SEQ;SEQ-NG - - GBE1 2 Johan den Dunnen