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.

23 entries on 1 page. Showing entries 1 - 23.
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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     
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #2 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #2 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #2 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #2 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Todorova 2005 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2005 - M - Germany - - - - - 1 Lab Müller-Reible
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #2 - pathogenic (recessive) g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic (recessive) g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - - - - - - - 1 Ieke Ginjaar
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #2 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat4 PubMed: Krahn 2006 - F - France - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #2 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat53 PubMed: Krahn 2006 - F - France - - - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT [883_884delinsCT; 887delA] - CAPN3_000234 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >15y - - - 1 Johan den Dunnen
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT 883_886delGATAinsCTT - CAPN3_000234 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT 883_886delGATAinsCTT - CAPN3_000234 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.883_886delinsCTT r.(?) p.(Asp295Leufs*57) Parent #1 - pathogenic (recessive) g.42682232_42682235delinsCTT - 883_884delinsCT;887delA - CAPN3_000234 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam24Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.883_886delinsCTT r.(?) p.(Asp295LeufsTer57) Parent #2 - pathogenic (recessive) g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT Asp295LeufsTer57 - CAPN3_000234 - PubMed: Peric 2019 - - Germline - - - - - DNA SEQ - - LGMD Pat11 PubMed: Peric 2019 - M - Serbia - - - - - 1 Johan den Dunnen
+/. - c.883_886delinsCTT r.(?) p.(Asp295LeufsTer57) Parent #1 - pathogenic (recessive) g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Rini 2025, Journal: Rini 20251 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat6 PubMed: Rini 2025, Journal: Rini 20251 family, 3 affected sibs F - Italy - - - - - 3 Johan den Dunnen
+/. - c.883_886delinsCTT r.(?) p.(Asp295LeufsTer57) Parent #1 - pathogenic (recessive) g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Rini 2025, Journal: Rini 20251 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat7 PubMed: Rini 2025, Journal: Rini 20251 brother - - Italy - - - - - 1 Johan den Dunnen
+/. - c.883_886delinsCTT r.(?) p.(Asp295LeufsTer57) Parent #1 - pathogenic (recessive) g.42682232_42682235delinsCTT g.42390034_42390037delinsCTT - - CAPN3_000234 - PubMed: Rini 2025, Journal: Rini 20251 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat23 PubMed: Rini 2025, Journal: Rini 20251 sister F - Italy - - - - - 1 Johan den Dunnen
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