Variant #0000499797 (NC_000017.10:g.41063252C>T, NM_000151.3:c.883C>T (G6PC))
Individual ID |
00245846 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41063252C>T |
DNA change (hg38) |
g.42911235C>T |
Published as |
- |
ISCN |
- |
DB-ID |
G6PC_000003 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs104894563 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2012-01-21 12:43:46 +01:00 (CET) |
Date last edited |
2021-09-09 14:41:03 +02:00 (CEST) |

Variant on transcripts
Screenings
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