Variant #0000642761 (NC_000007.13:g.5568796G>A, ACTB(NM_001101.3):c.359C>T)

Individual ID 00285864
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.5568796G>A
DNA change (hg38) g.5529165G>A
Published as -
ISCN -
DB-ID ACTB_000062 See all 2 reported entries
Variant remarks father not available
Reference PubMed: Di Donato 2014
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 +/. - c.359C>T r.(?) p.(Thr120Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000287022 DNA SEQ - - ACTB 1 Johan den Dunnen