Variant #0000675366 (NC_000003.11:g.81698005A>G, GBE1(NM_000158.3):c.691+2T>C)

Individual ID 00307234
Chromosome 3
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
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 2020, Journal: Ravenscroft 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00086 View details
Owner Gianina Ravenscroft
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.691+2T>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308376 DNA SEQ - - GBE1 2 Gianina Ravenscroft