Variant #0000642757 (NC_000007.13:g.5568127C>T, ACTB(NM_001101.3):c.587G>A)

Individual ID 00285860
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.5568127C>T
DNA change (hg38) g.5528496C>T
Published as -
ISCN -
DB-ID ACTB_000004 See all 10 reported entries
Variant remarks parents not available
Reference PubMed: Rivière 2012
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTB NM_001101.3 +/. 4 c.587G>A r.(?) p.(Arg196His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000287018 DNA SEQ - - ACTB 1 Johan den Dunnen