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 InternationalCreative Commons License
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)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C3 NM_000064.2 +/. 9 c.905T>C r.(?) p.(Leu302Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000422093 DNA SEQ - - C3 1 Christian Drouet


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.