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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
?/. - c.1333G>A r.(?) p.(Gly445Arg) Unknown - VUS g.42691829G>A g.42399631G>A CAPN3(NM_000070.2):c.1333G>A (p.(Gly445Arg)), CAPN3(NM_000070.3):c.1333G>A (p.G445R) - CAPN3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Both (homozygous) - pathogenic (recessive) g.42691829G>A g.42399631G>A - - CAPN3_000094 - Ginjaar WMS2005,PubMed: Ten Dam 2019 - - Germline - - - - - DNA DGGE - - LGMD - Ginjaar WMS2005, PubMed: Ten Dam 2019 - M no Netherlands - - - - - 1 Ieke Ginjaar
+/. 10 c.1333G>A r.1333g>a p.Gly445Arg Parent #1 - pathogenic g.42691829G>A g.42399631G>A 1333C>A - CAPN3_000094 - PubMed: Fanin 2004, PubMed: Fanin 2005, PubMed: Nascimbeni 2010 - - Germline - - - - - DNA, RNA DHPLC, RT-PCR, SEQ - - LGMD 1338/20635405-Pat PubMed: Fanin 2004, PubMed: Fanin 2005, PubMed: Nascimbeni 2010 - M - Italy - - - - - 1 Marina Fanin
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Unknown - pathogenic (recessive) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (recessive) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Richard 1999, Ginjaar WMS2005,PubMed: Ten Dam 2019 - - Germline - - - - - DNA SSCA, DGGE - - LGMD Fam16 PubMed: Richard 1999, Ginjaar WMS2005, PubMed: Ten Dam 2019 initially reported as 2 families M - Netherlands - - - - - 3 Ieke Ginjaar
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (recessive) g.42691829G>A g.42399631G>A - - CAPN3_000094 no variant 2nd chromosome PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Saenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 no variant 2nd chromosome PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >64y - - - 1 Johan den Dunnen
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #2 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >22y - - - 1 Johan den Dunnen
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 no variant 2nd chromosome PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >66y - - - 1 Johan den Dunnen
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 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
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 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
?/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - VUS g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 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
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 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
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A - - CAPN3_000094 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
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (recessive) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P7 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
?/. - c.1333G>A r.(?) p.(Gly445Arg) Both (homozygous) - VUS g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat66 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (dominant) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: González-Mera 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MYOP Fam3 PubMed: González-Mera 2020 2-generation family, 3 affected (2F, M) F;M - Spain - - - - - 3 Johan den Dunnen
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (dominant) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: González-Mera 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 109-gene panel MYOP Fam5 PubMed: González-Mera 2020 3-generation family, 10 affected (5F, 5M) F;M - United States - - - - - 10 Johan den Dunnen
+/. - c.1333G>A r.(1333g>a) p.(Gly445Arg) Parent #1 - NA g.42691829G>A g.42399631G>A - - CAPN3_000094 expression cloning mini-gene splicing assay no effect PubMed: Dionnet 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (dominant) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Cerino 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG, MLPA - WES LGMD Fam1 PubMed: Cerino 2020 4-generation family, 3 affected (2F, M) F;M - France - - - - - 3 Johan den Dunnen
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (dominant) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Cerino 2020 - - Germline yes - - - - DNA SEQ, MLPA - - LGMD Fam2 PubMed: Cerino 2020 4-generation family, 6 affected (3F, 3M) F;M - France - - - - - 6 Johan den Dunnen
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (dominant) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Cerino 2020 - - Germline yes - - - - DNA SEQ, MLPA - - LGMD Fam3 PubMed: Cerino 2020 3-generation family, 3 affected (2F, M) F;M - France - - - - - 3 Johan den Dunnen
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (dominant) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Cerino 2020 - - Germline yes - - - - DNA SEQ, MLPA - - LGMD Fam4 PubMed: Cerino 2020 3-generation family, 5 affected (2F, 3M) F;M - France - - - - - 5 Johan den Dunnen
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic g.42691829G>A g.42399631G>A Gly445Arg - CAPN3_000094 no variant 2nd chromosome PubMed: Schröder 2013 - - Germline - - - - - DNA SEQ - - LGMD CAPN3-Pat12 PubMed: Schröder 2013 - - - Germany - - - - - 1 Johan den Dunnen
+/. 10 c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (recessive) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam31Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (recessive) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1333G>A r.(?) p.(Gly445Arg) Parent #1 - pathogenic (recessive) g.42691829G>A g.42399631G>A - - CAPN3_000094 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1333G>A r.(?) p.(Gly445Arg) Unknown - pathogenic g.42691829G>A - CAPN3(NM_000070.2):c.1333G>A (p.(Gly445Arg)), CAPN3(NM_000070.3):c.1333G>A (p.G445R) - CAPN3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1333G>A r.(?) p.(Gly445Arg) Maternal (confirmed) - likely pathogenic (recessive) g.42691829G>A - - - CAPN3_000094 - PubMed: Macias 2021 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat9:B1(II2) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - 1 Johan den Dunnen
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