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.

21 entries on 1 page. Showing entries 1 - 21.
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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     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Paternal (confirmed) - pathogenic (recessive) g.129802567C>T g.129481422C>T C7781T ex54 - LAMA2_000146 - PubMed: Coral-Vazquez 2003, OMIM:var0008 - - Germline - - - - - DNA SEQ - - MDC 12601554-V2 PubMed: Coral-Vazquez 2003, OMIM:var0008 5-generation family, 1 affected, 6 unaffected carreirs F - Mexico - - - - - 7 Johan den Dunnen
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Maternal (confirmed) - pathogenic (recessive) g.129802567C>T g.129481422C>T C7781T ex54 - LAMA2_000146 - PubMed: Coral-Vazquez 2003, OMIM:var0008 - - Germline - - - - - DNA SEQ - - MDC 12601554-V2 PubMed: Coral-Vazquez 2003, OMIM:var0008 5-generation family, 1 affected, 6 unaffected carreirs F - Mexico - - - - - 7 Johan den Dunnen
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Unknown - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - - - - Germline - - - - - DNA SEQ - - MDC ? - - F - (United States) Hispanic - - - - 1 Tom Winder
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Unknown - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - - - - Germline - - - - - DNA SEQ - - MDC ? - - - - Russian Federation - - - - - 1 Tom Winder
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Parent #2 - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat04 PubMed: Geranmayeh 2010 - F - - - >1y4m - - - 1 Johan den Dunnen
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Parent #2 - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat33 PubMed: Geranmayeh 2010 - F - - - >11y - - - 1 Johan den Dunnen
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Paternal (inferred) - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - - - United States Mexican - - - - 1 Tom Winder
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Maternal (inferred) - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - - - United States Mexican - - - - 1 Tom Winder
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Unknown - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Parent #2 - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - M - United States Hispanic - - - - 1 Tom Winder
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Unknown - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Løkken 2015 - - Germline - - - - - DNA SEQ - - MDC 25663498-Pat3 PubMed: Løkken 2015 - M - Denmark - >07y - - - 1 Jorge Oliveira
+/. 55 c.7732C>T r.(?) p.(Arg2578*) Maternal (confirmed) - pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA SEQ - - MDC Pat38 PubMed: Xiong 2014 probable duplicate in Tan 2021 F - China - >00y18m - - - 1 Jorge Oliveira
+/+ 55 c.7732C>T r.(?) p.(Arg2578*) Unknown ACMG pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7732C>T r.(?) p.(Arg2578Ter) Unknown - pathogenic g.129802567C>T g.129481422C>T - - LAMA2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 55 c.7732C>T r.(?) p.(Arg2578Ter) Maternal (confirmed) ACMG pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat77 PubMed: Ge 2019, PubMed: Tan 2021 - F - China - - - - - 1 Johan den Dunnen
+/. - c.7732C>T r.(?) p.(Arg2578Ter) Both (homozygous) ACMG pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat20 PubMed: Camelo 2023 - F - Brazil - - - - - 1 Johan den Dunnen
+?/. - c.7732C>T r.(?) p.(Arg2578Ter) Parent #1 - likely pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat12 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7732C>T r.(?) p.(Arg2578Ter) Parent #2 - likely pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat5 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7732C>T r.(?) p.(Arg2578Ter) Parent #2 - likely pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat15 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.7732C>T r.(?) p.(Arg2578Ter) Parent #2 - likely pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat17 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7732C>T r.(?) p.(Arg2578Ter) Parent #2 - likely pathogenic (recessive) g.129802567C>T g.129481422C>T - - LAMA2_000146 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat66 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
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