Full data view for gene LMNA

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_170707.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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     
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Unknown - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - van Tienen, submitted - - Germline/De novo (untested) ? - - - - DNA SEQ blood - FPLD2 5 van Tienen, submitted - ? - - - - - - - 1 Florence van Tienen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 2 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 3 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 4 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 5 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Shackleton, OMIM:var0011 - - Germline - - -HpaII - - DNA SEQ - - FPLD - PubMed: Shackleton, OMIM:var0011 - - - - - - - - - 6 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Hegele - - Germline - - -HpaII - - DNA SEQ - - FPLD OFPLD-3–1/3 PubMed: Hegele 2000 2000 5-generation family, 6 affected (4F, 2M) F;M - Canada - - - - - 6 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - {PMIDPMID11078466:Vigouroux 2000}, PubMed: Vantyghem 2004 - - Germline - - -HpaII - - DNA SEQ - - FPLD FamH {PMIDPMID11078466:Vigouroux 2000}, PubMed: Vantyghem 2004 - - - France - - - - - 7 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - {PMIDPMID11078466:Vigouroux 2000}, PubMed: Vantyghem 2004 - - Germline - - -HpaII - - DNA SEQ - - FPLD FamK {PMIDPMID11078466:Vigouroux 2000}, PubMed: Vantyghem 2004 - - - France - - - - - 4 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 different haplotype PubMed: Speckman - - Germline - - -HpaII - - DNA DHPLC - - FPLD - PubMed: Speckman - - - - European - - - - 4 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 different haplotype PubMed: Speckman - - Germline - - -HpaII - - DNA DHPLC - - FPLD - PubMed: Speckman - - - India Asian - - - - 1 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 different haplotype PubMed: Speckman - - Germline - - -HpaII - - DNA DHPLC - - FPLD - PubMed: Speckman - - - - European - - - - 5 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 different haplotype PubMed: Speckman - - Germline - - -HpaII - - DNA DHPLC - - FPLD - PubMed: Speckman - - - - European - - - - 1 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 different haplotype PubMed: Speckman - - Germline - - -HpaII - - DNA DHPLC - - FPLD - PubMed: Speckman - - - - European - - - - 2 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 different haplotype PubMed: Speckman - - Germline - - -HpaII - - DNA DHPLC - - FPLD - PubMed: Speckman - - - - European - - - - 3 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Pandey 2005 - - Germline - - - - - DNA SEQ - - FPLD - PubMed: Garg 1999 extended Gujarati family, 16 affecteds F - India - >26y - - - 16 Johan den Dunnen
+/. 8 c.1444C>T r.(?) p.(Arg482Trp) Parent #1 - pathogenic g.156106775C>T g.156136984C>T - - LMNA_000011 - PubMed: Decaudain 2007 - - Germline - - - - - DNA SEQ - - FPLD 17711925-R482 PubMed: Decaudain 2007 - - - France white - - - - 3 Johan den Dunnen
+/. - c.1444C>T r.(?) p.(Arg482Trp) Unknown - pathogenic g.156106775C>T g.156136984C>T LMNA(NM_170707.2):c.1444C>T (p.R482W), LMNA(NM_170707.3):c.1444C>T (p.(Arg482Trp)) - LMNA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1444C>T r.(?) p.(Arg482Trp) Unknown - pathogenic g.156106775C>T - LMNA(NM_170707.2):c.1444C>T (p.R482W), LMNA(NM_170707.3):c.1444C>T (p.(Arg482Trp)) - LMNA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1444C>T r.(?) p.(Arg482Trp) Unknown - pathogenic g.156106775C>T - LMNA(NM_170707.2):c.1444C>T (p.R482W), LMNA(NM_170707.3):c.1444C>T (p.(Arg482Trp)) - LMNA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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