Variant #0000675334 (NC_000003.11:g.81695617C>G, GBE1(NM_000158.3):c.708G>C)
Individual ID |
00307234 |
Chromosome |
3 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.81695617C>G |
DNA change (hg38) |
g.81646466C>G |
Published as |
- |
ISCN |
- |
DB-ID |
GBE1_000049 |
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) |
2.0E-5 View details |
Owner |
Gianina Ravenscroft |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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