Full data view for gene DAG1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001165928.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 3 c.1022C>T r.(?) p.(Thr341Ile) Parent #1 - VUS g.49568966C>T g.49531533C>T - - DAG1_000061 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel CRS, LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.1022C>T r.(?) p.(Thr341Ile) Parent #1 - VUS g.49568966C>T g.49531533C>T - - DAG1_000061 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.1022C>T r.(?) p.(Thr341Ile) Parent #1 - VUS g.49568966C>T g.49531533C>T - - DAG1_000061 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.1022C>T r.(?) p.(Thr341Ile) Parent #1 - VUS g.49568966C>T g.49531533C>T - - DAG1_000061 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.1022C>T r.(?) p.(Thr341Ile) Parent #1 - VUS g.49568966C>T g.49531533C>T - - DAG1_000061 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.1022C>T r.(?) p.(Thr341Ile) Parent #1 - VUS g.49568966C>T g.49531533C>T - - DAG1_000061 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.1022C>T r.(?) p.(Thr341Ile) Parent #1 - VUS g.49568966C>T g.49531533C>T - - DAG1_000061 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148759919 Germline - 9/2757 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 9 Mohammed Faruq
?/. - c.1022C>T r.(?) p.(Thr341Ile) Unknown - VUS g.49568966C>T - DAG1(NM_001165928.3):c.1022C>T (p.(Thr341Ile)) - DAG1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query