Variant #0000436009 (NC_000003.11:g.?, DAG1(NM_001165928.3):c.(?_-729)_(*2416_?)del)

Individual ID 00205408
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as chr3:g.(48260361_48286183)_(50219661 _50252191)del (NCBI36)
ISCN -
DB-ID DAG1_000012
Variant remarks 1.9 Mb deletion incl. DAG1 from in ZNF589 to in SLC38A3/GNAI2; muscle mRNA 0.60
Reference PubMed: Frost 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAG1 NM_001165928.3 +?/. 1_6 c.(?_-729)_(*2416_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206436 DNA;RNA arrayCNV;MLPA;RT-PCR - - DAG1 1 Johan den Dunnen