Variant #0000608881 (NC_000003.11:g.81627202C>T, GBE1(NM_000158.3):c.1492G>A)
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.81627202C>T |
DNA change (hg38) |
g.81578051C>T |
Published as |
GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) |
ISCN |
- |
DB-ID |
GBE1_000009 See all 5 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00072 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |

Variant on transcripts
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