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.

25 entries on 1 page. Showing entries 1 - 25.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.7520del r.(?) p.(Asn2507IlefsTer40) Parent #2 - likely pathogenic (recessive) g.129799906del g.129478761del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat29 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7520del r.(?) p.(Asn2507IlefsTer40) Parent #2 - likely pathogenic (recessive) g.129799906del g.129478761del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat67 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 54 c.7536del r.(?) p.(Asp2513Ilefs*34) Unknown - pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+?/+? 54 c.7536del r.(?) p.(Asp2513Ilefs*34) Unknown ACMG likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #1 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - 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.7536del r.(?) p.(Asp2513IlefsTer34) Parent #1 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat8 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+?/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Both (homozygous) - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat9 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Both (homozygous) - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat18 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #1 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat21 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Both (homozygous) - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat24 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+?/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Both (homozygous) - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat30 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #1 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat51 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #1 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat54 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Both (homozygous) - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat65 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Both (homozygous) - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat75 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asn2507IlefsTer40) Parent #2 - likely pathogenic (recessive) g.129799906del g.129478761del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat1 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat6 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat37 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat40 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat45 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat64 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat69 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat70 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat78 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7536del r.(?) p.(Asp2513IlefsTer34) Parent #2 - likely pathogenic (recessive) g.129799922del g.129478777del - - LAMA2_000357 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat81 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
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