Full data view for gene LAMA2

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_000426.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

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Disease     

ID_report     

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Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

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Panel size     

Owner     
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Both (homozygous) g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Both (homozygous) g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Both (homozygous) g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. 24 c.3412G>A - r.(?) p.(Val1138Met) Parent #1 g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - rs2306942 Germline - - - 0 - DNA SEQ - - MDC - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 24 c.3412G>A - r.3412g>a p.Val1138Met Unknown g.129635800G>A g.129314655G>A 3461G>A ex23 - LAMA2_000064 - PubMed: Tezak 2003 - - Germline - 0.06 - 0 - DNA, RNA RT-PCR, SSCA, DHPLC - - Healthy/Control 12552556-con PubMed: Tezak 2003 - - - United States - - 0 - - 1 Johan den Dunnen
-/. 24 c.3412G>A - r.(?) p.(Val1138Met) Paternal (confirmed) g.129635800G>A g.129314655G>A - - LAMA2_000064 - PubMed: Yuan 2008 - - Germline - - - 0 - DNA SEQ - - MDC 19294599-Pat1 PubMed: Yuan 2008 - F yes China - >8m 0 - - 1 Rosário dos Santos
-/. 24 c.3412G>A - r.(?) p.(Val1138Met) Maternal (confirmed) g.129635800G>A g.129314655G>A - - LAMA2_000064 - PubMed: Yuan 2008 - - Germline - - - 0 - DNA SEQ - - MDC 19294599-Pat1 PubMed: Yuan 2008 - F yes China - >8m 0 - - 1 Rosário dos Santos
-/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - PubMed: Oliveira 2008 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 18700894-con PubMed: Oliveira 2008 - - - Portugal - - 0 - - 1 Rosário dos Santos
-/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 24 c.3412G>A - r.(?) p.(Val1138Met) Unknown g.129635800G>A g.129314655G>A - - LAMA2_000064 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
-?/. 24 c.3412G>A likely benign r.(?) p.(Val1138Met) Unknown g.129635800G>A - LAMA2(NM_000426.3):c.3412G>A (p.V1138M) - LAMA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 24 c.3412G>A benign r.(?) p.(Val1138Met) Unknown g.129635800G>A - LAMA2(NM_000426.3):c.3412G>A (p.V1138M) - LAMA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 24 c.3412G>A benign r.(?) p.(Val1138Met) Unknown g.129635800G>A - LAMA2(NM_000426.3):c.3412G>A (p.V1138M) - LAMA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 24 c.3412G>A benign r.(?) p.(Val1138Met) Unknown g.129635800G>A - LAMA2(NM_000426.3):c.3412G>A (p.V1138M) - LAMA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 24 c.3412G>A ACMG: 1 r.spl? p.? Unknown g.129635800G>A - - - LAMA2_000064 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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