Variant #0000881121 (NC_000007.13:g.5568167G>A, NM_001101.3:c.547C>T (ACTB))

Individual ID 00419458
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.5568167G>A
DNA change (hg38) g.5528536G>A
Published as -
ISCN -
DB-ID ACTB_000005 See all 9 reported entries
Variant remarks ACMG PS2, PM2, PP2, PP3, PP4, PP5
Reference PubMed: Marinakis 2021
ClinVar ID -
dbSNP ID rs104894003
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jan Traeger-Synodinos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-10-20 16:24:48 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTB NM_001101.3 +/. - c.547C>T r.(?) p.(Arg183Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000420762 DNA SEQ;SEQ-NG - WES - 1 Jan Traeger-Synodinos


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