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.

16 entries on 1 page. Showing entries 1 - 16.
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     
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Both (homozygous) - pathogenic (recessive) g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA DGGE - - LGMD - PubMed: Ten Dam 2019 - M - Egypt - - - - - 1 Ieke Ginjaar
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #2 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - France - - - - - 1 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #1 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #1 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #1 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #1 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #1 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #2 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #2 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #2 - pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - F - Chile - - - - - 1 Tom Winder
+?/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #1 - likely pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #1 - likely pathogenic g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 13 c.1622G>A r.[1622g>a,1537_1745del] p.[(Arg541Gln,?)] Unknown - NA g.42695077G>A g.42402879G>A - - CAPN3_000024 expression cloning mini-gene splicing assay mild effect on splicing PubMed: Dionnet 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1622G>A r.(?) p.(Arg541Gln) Both (homozygous) - pathogenic (recessive) g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Unknown - pathogenic (recessive) g.42695077G>A g.42402879G>A - - CAPN3_000024 combination of variants not reported PubMed: Barp 2020 - - Germline - 4/57 cases - - - DNA SEQ - - LGMD - PubMed: Barp 2020 analysis 57 LGMD2A cases - - - - - - - - 4 Johan den Dunnen
+/. 13 c.1622G>A r.(?) p.(Arg541Gln) Parent #2 - pathogenic (recessive) g.42695077G>A g.42402879G>A - - CAPN3_000024 - PubMed: Balci 2006 - - Germline - - - - - DNA SEQ - - LGMD2 Pat13 PubMed: Balci 2006 - M no Turkey - - - - - 1 Pervin Dincer
Legend   How to query  


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