Variant #0000896982 (NC_000019.9:g.6713298A>G, NM_000064.2:c.905T>C (C3))
Individual ID |
00420782 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.6713298A>G |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
C3_000163 |
Variant remarks |
Leu302 position located in the MG3 domain of C3, playing a critical role in the conversion from C3 to C3b. p.(Leu302Pro) variant product was not secreted from the cells after transient transfection. |
Reference |
PubMed: Mohlin 2018, Journal: Mohlin 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Christian Drouet |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Christian Drouet |
Date created |
2022-11-02 17:59:02 +01:00 (CET) |
Date last edited |
2022-11-25 09:10:32 +01:00 (CET) |

Variant on transcripts
Screenings
|