Variant #0000920519 (NC_000017.10:g.41059578_41059579dup, NM_000151.3:c.379_380dup (G6PC))
Individual ID |
00433204 |
Chromosome |
17 |
Allele |
Maternal (confirmed) |
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.41059578_41059579dup |
DNA change (hg38) |
- |
Published as |
459insTA (130X) |
ISCN |
- |
DB-ID |
G6PC_000004 See all 9 reported entries |
Variant remarks |
- |
Reference |
PubMed: Lei 1995 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2023-03-03 15:48:48 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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