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.

41 entries on 1 page. Showing entries 1 - 41.
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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     
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #1 - pathogenic (recessive) g.129637234C>T g.129316089C>T C4025T - LAMA2_000033 unknown variant 2nd chromosome PubMed: Allamand 2002 - - Germline - - - - - DNA SEQ - - MDC 11938437-pat? PubMed: Allamand 2002 PG - - (France) - - - - - 1 Johan den Dunnen
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #1 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2008 - - Germline - - - - - DNA SEQ - - MDC 18700894-Pat10 PubMed: Oliveira 2008 - M - Portugal - >07y - - - 1 Rosário dos Santos
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #2 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2008 - - Germline - - - - - DNA SEQ - - MDC 18700894-Pat10 PubMed: Oliveira 2008 - M - Portugal - >07y - - - 1 Rosário dos Santos
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #1 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2008 - - Germline - - - - - DNA SEQ - - MDC 18700894-Pat2 PubMed: Oliveira 2008 - M - Portugal - >07y - - - 1 Rosário dos Santos
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #2 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2008 - - Germline - - - - - DNA SEQ - - MDC 18700894-Pat2 PubMed: Oliveira 2008 - M - Portugal - >07y - - - 1 Rosário dos Santos
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #1 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2008 - - Germline - - - - - DNA SEQ - - MDC 18700894-Pat17 PubMed: Oliveira 2008 - M - Portugal - >02y - - - 1 Rosário dos Santos
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - - - - Germline - - - - - DNA SEQ - - MDC ? - - M - Sweden - - - - - 1 Patricio Brand
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - - - - Germline - - - - - DNA SEQ - - MDC ? - - M - United States - - - - - 1 Tom Winder
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Maternal (inferred) - pathogenic (recessive) g.129637234C>T g.129316089C>T 3967C>T - LAMA2_000033 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - - - United States - - - - - 1 Tom Winder
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #2 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - M - United States - - - - - 1 Tom Winder
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #1 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat04 PubMed: Geranmayeh 2010 - F - - - >1y4m - - - 1 Johan den Dunnen
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #2 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat08 PubMed: Geranmayeh 2010 - F - - - >2y - - - 1 Johan den Dunnen
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #2 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - - - United States - - - - - 1 Tom Winder
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Parent #1 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - - - DNA SEQ - - MDC - PubMed: Oliveira 2018, Journal: Oliveira 2018 - M - Portugal - - - - - 1 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC - PubMed: Oliveira 2018, Journal: Oliveira 2018 1-generation family, 2 affecteds (1M, 1F) M - Portugal - - - - - 2 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - - - DNA SEQ - - MDC - PubMed: Oliveira 2018, Journal: Oliveira 2018 1-generation family, 2 affecteds (1M, 1F) F - Portugal - - - - - 1 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - - - DNA SEQ - - MDC - PubMed: Oliveira 2018, Journal: Oliveira 2018 - F - Spain - - - - - 1 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Both (homozygous) - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline yes - - - - DNA SEQ - - MDC - PubMed: Oliveira 2018, Journal: Oliveira 2018 1-generation family, 2 affecteds (1M, 1F) F - Portugal - - - - - 2 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Both (homozygous) - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline yes - - - - DNA SEQ - - MDC - PubMed: Oliveira 2018, Journal: Oliveira 2018 - M - Portugal - - - - - 1 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline yes - - - - DNA SEQ - - MDC - PubMed: Oliveira 2018, Journal: Oliveira 2018 1-generation family, 2 affecteds (2F) M - Portugal - - - - - 1 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Løkken 2015 - - Germline - - - - - DNA SEQ - - MDC 25663498-Pat1 PubMed: Løkken 2015 - M - Denmark - >04y - - - 1 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Løkken 2015 - - Germline - - - - - DNA SEQ - - MDC 25663498-Pat4 PubMed: Løkken 2015 - F - Denmark - >04y - - - 1 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326*) Unknown - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - - - DNA SEQ - - MDC - PubMed: Oliveira 2018, Journal: Oliveira 2018 1-generation family, 2 affecteds (2F) F - Portugal - - - - - 2 Jorge Oliveira
+/. 27 c.3976C>T r.(?) p.(Arg1326Ter) Unknown - pathogenic g.129637234C>T g.129316089C>T LAMA2(NM_000426.3):c.3976C>T (p.(Arg1326Ter)) - LAMA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 27 c.3976C>T r.(?) p.(Arg1326*) Unknown ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3976C>T r.(?) p.(Arg1326*) Parent #1 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123373 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.3976C>T r.(?) p.(Arg1326*) Unknown - likely pathogenic g.129637234C>T g.129316089C>T - - LAMA2_000033 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+?/. - c.3976C>T r.(?) p.(Arg1326Ter) Parent #1 - likely pathogenic g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P15 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 27 c.3976C>T r.(?) p.(Arg1326Ter) Maternal (confirmed) ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat40 PubMed: Ge 2019, PubMed: Tan 2021 family affected brother/sister F - China - - - - - 2 Johan den Dunnen
+/. 27 c.3976C>T r.(?) p.(Arg1326Ter) Maternal (confirmed) ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat109 PubMed: Ge 2019, PubMed: Tan 2021 elder brother M - China - 15y6m - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Parent #1 ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat9 PubMed: Camelo 2023 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Parent #1 ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat15 PubMed: Camelo 2023 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Parent #1 ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat18 PubMed: Camelo 2023 - F - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Parent #1 ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat35 PubMed: Camelo 2023 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Both (homozygous) ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat43 PubMed: Camelo 2023 - F - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Both (homozygous) ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat45 PubMed: Camelo 2023 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Parent #1 ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat48 PubMed: Camelo 2023 - F - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Parent #2 ACMG pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat2 PubMed: Camelo 2023 - F - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3976C>T r.(?) p.(Arg1326Ter) Unknown - pathogenic g.129637234C>T - LAMA2(NM_000426.3):c.3976C>T (p.(Arg1326Ter)) - LAMA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3976C>T r.(?) p.(Arg1326*) Parent #1 - pathogenic (recessive) g.129637234C>T g.129316089C>T - - LAMA2_000033 - PubMed: Lord 2024 ClinVar-92956 - Germline - - - - - DNA SEQ, SEQ-NG - wgs MYOP PatLAMA2 PubMed: Lord 2024 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
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