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.

7 entries on 1 page. Showing entries 1 - 7.
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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     
-?/. 6 c.1308G>A r.(?) p.(=) Parent #1 - likely benign g.49569252G>A g.49531819G>A 1702G>A (T436T) - DAG1_000024 does not influence severity IBM PubMed: Gotlieb 2005 - - Germline - - - 0 - DNA SEQ - - IBM - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - 1 Johan den Dunnen
-?/. 6 c.1308G>A r.(?) p.(=) Parent #2 - likely benign g.49569252G>A g.49531819G>A 1702G>A (T436T) - DAG1_000024 does not influence severity IBM PubMed: Gotlieb 2005 - - Germline - - - 0 - DNA SEQ - - IBM - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - 1 Johan den Dunnen
-?/. 6 c.1308G>A r.(?) p.(=) Parent #1 - likely benign g.49569252G>A g.49531819G>A 1702G>A (T436T) - DAG1_000024 does not influence severity IBM PubMed: Gotlieb 2005 - - Germline - - - 0 - DNA SEQ - - IBM - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - 1 Johan den Dunnen
-?/. 6 c.1308G>A r.(?) p.(=) Parent #2 - likely benign g.49569252G>A g.49531819G>A 1702G>A (T436T) - DAG1_000024 does not influence severity IBM PubMed: Gotlieb 2005 - - Germline - - - 0 - DNA SEQ - - IBM - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - 1 Johan den Dunnen
-?/. 6 c.1308G>A r.(?) p.(=) Parent #1 - likely benign g.49569252G>A g.49531819G>A 1702G>A (T436T) - DAG1_000024 does not influence severity IBM PubMed: Gotlieb 2005 - - Germline - - - 0 - DNA SEQ - - IBM - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - 1 Johan den Dunnen
-?/. 6 c.1308G>A r.(?) p.(=) Parent #2 - likely benign g.49569252G>A g.49531819G>A 1702G>A (T436T) - DAG1_000024 does not influence severity IBM PubMed: Gotlieb 2005 - - Germline - - - 0 - DNA SEQ - - IBM - PubMed: Gotlieb 2005 - - - (United States) Iran;Jewish - 0 - - 1 Johan den Dunnen
?/. 3 c.1308G>A r.(?) p.(=) Parent #1 - VUS g.49569252G>A g.49531819G>A - - DAG1_000024 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
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