Variant #0000597295 (NC_000003.11:g.49569691G>A, DAG1(NM_001165928.3):c.1747G>A)

Individual ID 00265467
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.49569691G>A
DNA change (hg38) g.49532258G>A
Published as -
ISCN -
DB-ID DAG1_000101
Variant remarks ACMG PM2, PP3; in silico prediction pathogenic
Reference PubMed: Özyilmaz 2019
ClinVar ID -
dbSNP ID rs781334046
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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 ?/. - c.1747G>A r.(?) p.(Gly583Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000266590 DNA SEQ;SEQ-NG - LGMD gene panel DAG1 1 Johan den Dunnen