Variant #0000436002 (NC_000003.11:g.49569109C>T, DAG1(NM_001165928.3):c.(1165C>T))

Individual ID 00205402
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49569109C>T
DNA change (hg38) g.49531676C>T
Published as C1568T (R398*)
ISCN -
DB-ID DAG1_000000 See all 6 reported entries
Variant remarks affects p.Arg389 in zebrafish (c.1568C>T p.Arg398*)
Reference PubMed: Lin 2011
ClinVar ID -
dbSNP ID -
Origin animal model
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAG1 NM_001165928.3 +/. 6 c.(1165C>T) r.(?) p.(Arg389*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206430 DNA SEQ - - DAG1 1 Johan den Dunnen