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.

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.(del?) p.(del?) Paternal (confirmed) - pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del - - - LAMA2_000454 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA MLPA, SEQ - - MDC Pat9 PubMed: Xiong 2014 probable duplicate in Tan 2021 M - China - >02y - - - 1 Jorge Oliveira
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.(del?) p.(del?) Paternal (confirmed) - pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del - - - LAMA2_000454 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA MLPA, SEQ - - MDC Pat14 PubMed: Xiong 2014 probable duplicate in Tan 2021 F - China - >07y - - - 1 Jorge Oliveira
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.(del?) p.(del?) Both (homozygous) - pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del - - - LAMA2_000454 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA MLPA, SEQ - - MDC Pat17 PubMed: Xiong 2014 probable duplicate in Tan 2021 M yes China - 09y - - - 1 Jorge Oliveira
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.(del?) p.(del?) Both (homozygous) - pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del - - - LAMA2_000454 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA MLPA, SEQ - - MDC Pat18 PubMed: Xiong 2014 probable duplicate in Tan 2021 M - China - >05y - - - 1 Jorge Oliveira
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.(del?) p.(del?) Unknown - pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del - - - LAMA2_000454 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA SEQ - - MDC Pat39 PubMed: Xiong 2014 probable duplicate in Tan 2021 M - China - >12y - - - 1 Jorge Oliveira
+/+ 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.spl p.? Unknown ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del - - - LAMA2_000454 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Paternal (confirmed) - pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Wang 2019 - - Germline - 2/70 cases - - - DNA MLPA, SEQ - - BMD/DMD P63 PubMed: Wang 2019 analysis 70 unrelated MD families F - China - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Wang 2019 - - Germline - 2/70 cases - - - DNA MLPA, SEQ - - BMD/DMD P64 PubMed: Wang 2019 analysis 70 unrelated MD families M - China - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat30 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - F - China - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - 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
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Both (homozygous) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat57 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - M yes China - 6y4m - - - 1 Johan den Dunnen
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - 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
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat79 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Both (homozygous) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat93 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat94 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - F - China - 12y8m - - - 1 Johan den Dunnen
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat98 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - M - China - 13y - - - 1 Johan den Dunnen
+/. 3i_4i c.(396+1_397-1)_(639+1_640-1)del r.? p.? Maternal (confirmed) ACMG pathogenic (recessive) g.(129381042_129419317)_(129419561_129465045)del g.(129059897_129098172)_(129098416_129143900)del del ex4 - LAMA2_000454 - PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat121 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - F - China - - - - - 1 Johan den Dunnen
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