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.

28 entries on 1 page. Showing entries 1 - 28.
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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     
+/. 11 c.1824C>T r.spl p.(Val607_Gln656del) Unknown - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - van Tienen, submitted - - Germline/De novo (untested) ? - - - - DNA SEQ blood - HGPS 9 van Tienen, submitted - - - - - - - - - 1 Florence van Tienen
+/. 11 c.1824C>T r.(spl?) p.(?) Parent #1 - pathogenic g.156108404C>T g.156138613C>T del 1q23 - LMNA_000076 - PubMed: Delgado-Luengo, PubMed: Eriksson, OMIM:var0022 - - Germline - - - - - DNA SEQ - - HGPS - PubMed: Delgado-Luengo, PubMed: Eriksson, OMIM:var0022 cell line suggested to contain deletion rescuing deleterious change - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824c>u, 1819_1968del] p.[=, Val607_Gln656del] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 not in 300 control chromosomes PubMed: De Sandre-Giovannoli, OMIM:var0022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: De Sandre-Giovannoli, OMIM:var0022 - - - - - - - - - 2 Johan den Dunnen
+/. 11 c.1824C>T r.(spl?) p.(?) Maternal (confirmed) - pathogenic g.156108404C>T g.156138613C>T HGVS [=/1824C>T] - LMNA_000076 1/10 leukocyte and buccal swab, not in fibroblasts and hair roots Wuyts, ASHG2004, P2691 - - Germline - - - - - DNA SEQ - - HGPS - Wuyts, ASHG2004, P2691 inherited from mother, mosaic carrier - - Belgium - >5m - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.(spl?) p.(?) Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 de novo, in patient PubMed: Navarro 2004, OMIM:var0022 - - De novo - - - - - DNA SEQ - - RD P2 PubMed: Navarro 2004, OMIM:var0022 - - - Morocco;Algeria white >5m - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 studied cell line PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.spl p.(=) Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - - - - Germline - - - - - DNA SEQ - - HGPS - - - - - United States - - - - - 1 Soma Das
+/. 11 c.1824C>T r.spl p.(=) Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - - - - Germline - - - - - DNA SEQ - - HGPS 1 - - - - United States - - - - - 1 Soma Das
+/. 11 c.1824C>T r.[1824c>u, 1819_1968del] p.[=, Val607_Gln656del] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 studied patient cell line, variant allele 40% alt.spliced transcript+14% normal PubMed: Reddel 2004, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Reddel 2004, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824c>u, 1819_1968del] p.[=, Val607_Gln656del] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 studied patient cell line, variant allele 40% alt.spliced transcript+10% normal PubMed: Reddel 2004, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Reddel 2004, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - PubMed: Eriksson 2003, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 studied cell line, variant allele 0.62 alternatively spliced transcript (0,20 of total RNA), 0.38 normally spliced PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, PubMed: Moulson 2007, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T 2036C>T - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - M - United States white 13y - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T 2036C>T - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - M - United States white 10y - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T 2036C>T - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - F - United States white 10y - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T 2036C>T - LMNA_000076 - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - M - United States white 5y - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T 2036C>T - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, PubMed: Cao 2003, OMIM:var0022 - M - United States white 9y - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - PubMed: Eriksson 2003, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - PubMed: Eriksson 2003, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 de novo, in patient PubMed: Eriksson 2003, OMIM:var0022 - - De novo - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - PubMed: Eriksson 2003, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.[1824C>T,1819_1968del] p.[Val607_Gln656del,=] Parent #1 - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - PubMed: Eriksson 2003, OMIM:var0022 - - Germline - - +BstXI - - DNA, RNA RT-PCR, SEQ - - HGPS - PubMed: Eriksson 2003, OMIM:var0022 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1824C>T r.(?) p.(=) Unknown - pathogenic g.156108404C>T g.156138613C>T - - LMNA_000076 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
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