Variant #0000436024 (NC_000003.11:g.49569252G>A, DAG1(NM_001165928.3):c.1308G>A)

Individual ID 00205420
Chromosome 3
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.49569252G>A
DNA change (hg38) g.49531819G>A
Published as 1702G>A (T436T)
ISCN -
DB-ID DAG1_000024 See all 7 reported entries
Variant remarks does not influence severity IBM
Reference PubMed: Gotlieb 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0003 View details
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     
DAG1 NM_001165928.3 -?/. 6 c.1308G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206448 DNA SEQ - - DAG1 2 Johan den Dunnen