Variant #0000697585 (NC_000003.11:g.81698005A>G, GBE1(NM_000158.3):c.691+2T>C)
Individual ID |
00314323 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
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 |
combination of variants not reported |
Reference |
PubMed: Topf 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/1001 cases |
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 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
|
|