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.

22 entries on 1 page. Showing entries 1 - 22.
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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     
+/. 50 c.7147C>T r.7147c>u p.Arg2383* Parent #2 - pathogenic (recessive) g.129785589C>T g.129464444C>T 7196C>T - LAMA2_000082 - PubMed: Pegoraro 2000, OMIM:var0012 - - Germline - - NlaIII+ - - DNA, RNA RT-PCR, SSCA - - MDC 11071490-Pat PubMed: Pegoraro 2000, OMIM:var0011 - F - Italy - >14y - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383*) Unknown - pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - - - - Germline - - - - - DNA SEQ - - MDC ? - - M - United States - - - - - 1 Tom Winder
+/. 50 c.7147C>T r.(?) p.(Arg2383*) Parent #2 - pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - F - Israel Jewish-Sephardic - - - - 1 Tom Winder
+/. 50 c.7147C>T r.(?) p.(Arg2383*) Both (homozygous) - pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: He 2013 - - Germline - - - - - DNA SEQ - - MDC 24223650-Pat PubMed: He 2013 - F no China - - - - - 1 Jorge Oliveira
+/. 50 c.7147C>T r.(?) p.(Arg2383*) Unknown - pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA SEQ - - MDC Pat2 PubMed: Xiong 2014 probable duplicate in Tan 2021 M - China - >12y - - - 1 Jorge Oliveira
+/+ 50 c.7147C>T r.(?) p.(Arg2383*), p.Arg2383* Unknown ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7147C>T r.(?) p.(Arg2383*) Parent #1 - pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121913576 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Parent #1 - pathogenic g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5563 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat12 PubMed: Ge 2019, PubMed: Tan 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat32 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - F - China - 3y5m - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat46 PubMed: Ge 2019, PubMed: Tan 2021 - F - China - - - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat96 PubMed: Ge 2019, PubMed: Tan 2021 - F - China - - - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Both (homozygous) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat107 PubMed: Ge 2019, PubMed: Tan 2021 - M - China - 14y4m - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat112 PubMed: Ge 2019, PubMed: Tan 2021 - M - China - 18y - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Maternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat35 PubMed: Ge 2019, PubMed: Tan 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Maternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat42 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Maternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat44 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - F - China - - - - - 1 Johan den Dunnen
+/. 50 c.7147C>T r.(?) p.(Arg2383Ter) Maternal (confirmed) ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat61 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - F - China - - - - - 1 Johan den Dunnen
+/. - c.7147C>T r.(?) p.(Arg2383Ter) Parent #1 ACMG pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat51 PubMed: Camelo 2023 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.7147C>T r.(?) p.(Arg2383Ter) Both (homozygous) - likely pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat80 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.7147C>T r.(?) p.(Arg2383Ter) Parent #2 - likely pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat19 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.7147C>T r.(?) p.(Arg2383Ter) Parent #2 - likely pathogenic (recessive) g.129785589C>T g.129464444C>T - - LAMA2_000082 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat72 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
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