Variant #0000642771 (NC_000007.13:g.5568799A>G, ACTB(NM_001101.3):c.356T>C)

Individual ID 00285874
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.5568799A>G
DNA change (hg38) g.5529168A>G
Published as -
ISCN -
DB-ID ACTB_000066
Variant remarks -
Reference PubMed: Verloes 2015
ClinVar ID ClinVar-SCV000148640
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 +/. - c.356T>C r.(?) p.(Met119Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000287032 DNA SEQ - - ACTB 1 Johan den Dunnen