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.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 40 c.? r.(?) p.? Parent #1 - VUS g.? - 8804C>T (R546C) - DAG1_000000 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
-?/. 6 c.(1453_1455?>?) r.(?) p.(Ser485Arg) Parent #1 - likely benign g.? - S485R - DAG1_000000 1 heterozygote PubMed: Concolino 2007 - - Germline - 1/106 chromosomes - 0 - DNA SEQ - - Healthy/Control - PubMed: Concolino 2007 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 6 c.(575C>T) r.(?) p.(Thr192Met) Both (homozygous) - pathogenic g.49568519C>T g.49531086C>T - - DAG1_000000 mouse knock-in; significantly reduced laminin-binding activity, reduced maturation neuromuscular junction PubMed: Hara 2011 - - animal model - - - 0 - DNA SEQ - - MD - PubMed: Hara 2011 heterozygotes unaffected - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.(1165C>T) r.(?) p.(Arg389*) Both (homozygous) - pathogenic g.49569109C>T g.49531676C>T C1568T (R398*) - DAG1_000000 affects p.Arg389 in zebrafish (c.1568C>T p.Arg398*) PubMed: Lin 2011 - - animal model - - - 0 - DNA SEQ - - ? - PubMed: Lin 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. 6 c.1236G>Y r.(?) p.(Glu412Asp) Parent #1 - likely benign g.49569180G>Y g.49531747G>Y E412D - DAG1_000000 1 heterozygote PubMed: Concolino 2007 - - Germline - 1/106 chromosomes - 0 - DNA SEQ - - Healthy/Control - PubMed: Concolino 2007 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 6 c.(1778T>A) r.(?) (p.Ile593Asp) Both (homozygous) - pathogenic g.49569722T>A g.49532289T>A - - DAG1_000000 affects p.Ile593 in zebrafish (c.1700T>A p.Val567Asp); reduced transcripts, complete absence protein PubMed: Gupta 2011 - - animal model - - - 0 - DNA SEQ - - ? - PubMed: Gupta 2011 - - - - - - 0 - - 1 Johan den Dunnen
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