Variant #0000179033 (NC_000007.13:g.5568804C>A, NM_001101.3:c.351G>T (ACTB))

Individual ID 00111411
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5568804C>A
DNA change (hg38) g.5529173C>A
Published as -
ISCN -
DB-ID ACTB_000009
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Bernt Popp
Database submission license No license selected
Created by Bernt Popp
Date created 2017-08-03 07:43:05 +02:00 (CEST)
Date last edited 2017-08-04 11:09:40 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTB NM_001101.3 +/. - c.351G>T r.(?) p.(Glu117Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111876 DNA SEQ-NG - - ACTB 1 Bernt Popp


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