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.

14 entries on 1 page. Showing entries 1 - 14.
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.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - Germany - - 0 - - 1 Lab Müller-Reible
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Unknown - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - - - - Unknown - - - 0 - DNA PCR, SEQ - - LGMD - - - - - United States - - 0 - - 1 Tom Winder
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 2 Variants detected in CAPN3 PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.145C>T r.(?) p.(Arg49Cys) Paternal (confirmed) - pathogenic (recessive) g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Yu 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P153 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - 0 - - 1 Johan den Dunnen
?/. - c.145C>T r.(?) p.(Arg49Cys) Parent #1 - VUS g.42652148C>T g.42359950C>T - - CAPN3_000263 - PubMed: Zhong 2020 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - LGMD Pat93 PubMed: Zhong 2020 analysis 124 patients - - China Han - 0 - - 1 Huahua Zhong
+?/. - c.145C>T r.(?) p.(Arg49Cys) Unknown - likely pathogenic g.42652148C>T g.42359950C>T - - CAPN3_000263 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
Legend   How to query