Variant #0000617928 (NC_000019.9:g.6712585A>G, NM_000064.2:c.1053T>C (C3))

Chromosome 19
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.6712585A>G
DNA change (hg38) g.6712574A>G
Published as -
ISCN -
DB-ID C3_000091
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) 2.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-07-15 10:47:06 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C3 NM_000064.2 ?/. - c.1053T>C r.(?) p.(Ser351=)


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