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 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
|
|