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.

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

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     
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Parent #1 - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: van der Kooi, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SSCA - - FPLD Pat3 PubMed: van der Kooi, OMIM:var0005 - F - France - - - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Parent #1 - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CMD 19768759-II:2 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 M - Italy - 50y - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Parent #1 - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - ? 19768759-II:4 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 F - Italy - 52y - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Parent #1 - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CCD 19768759-II:5 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 M - Italy - 50y - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Paternal (confirmed) - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CMD 19768759-III:2 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 F - Italy - 44y - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Paternal (confirmed) - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CMD 19768759-III:3 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 M - Italy - 50y - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Paternal (confirmed) - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CMD 19768759-III:5 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 F - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Maternal (confirmed) - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CCD 19768759-III:7 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 M - Italy - 57y - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Paternal (confirmed) - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CCD 19768759-IV:2 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 F - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Maternal (confirmed) - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CMD 19768759-IV:4 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 M - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.178C>G r.(?) p.(Arg60Gly) Maternal (confirmed) - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - DNA SEQ - - CMD 19768759-IV:5 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 M - Italy - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.