Full data view for gene CAPN3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000070.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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     
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #1 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - France - - 0 - - 1 Amets Sáenz
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #2 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - France - - 0 - - 1 Amets Sáenz
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #1 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #2 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #1 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2005 + PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #2 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2005 + PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #1 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2005 + PubMed: Piluso 2005 - F - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #2 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2005 + PubMed: Piluso 2005 - F - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #1 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - France - - 0 - - 1 Amets Sáenz
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #1 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - PubMed: Krahn 2006 - - Germline - - - 0 - DNA DHPLC - - LGMD Pat28 PubMed: Krahn 2006 - M - France - >79y 0 - - 1 Johan den Dunnen
+/. 1 c.140_142del r.(?) p.(Ile47del) Parent #1 - pathogenic g.42652143_42652145del g.42359945_42359947del - - CAPN3_000193 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - Italy - - 0 - - 2 Amets Sáenz
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