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.

49 entries on 1 page. Showing entries 1 - 49.
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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     
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #2 - pathogenic g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - PubMed: Richard 1997 - - Germline - - - - - DNA SEQ - - LGMD 09150160-US9344 PubMed: Richard 1997, OMIM:var0006 2-generation family, 2 affecteds (2F) F no United States - - - - - 1 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #2 - pathogenic (recessive) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 2 Amets Sáenz
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #2 - pathogenic g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - United States - - - - - 1 Tom Winder
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #2 - pathogenic g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #2 - pathogenic g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - likely pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681136_42681156del g.42388938_42388958del 643_663del21 - CAPN3_000075 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - VUS g.42681136_42681156del g.42388938_42388958del 643_663delTCCTACGAAGCTCTGAAAGGT - CAPN3_000075 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam1 PubMed: Vissing 2016 4-generation family, 15 affected (6F, 9M) F;M no Denmark - - - - - 15 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam2 PubMed: Vissing 2016 3-generation family, affected mother/son F;M no Denmark - - - - - 2 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam3 PubMed: Vissing 2016 3-generation family, 3 affected (3F) F no Denmark - - - - - 3 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam4 PubMed: Vissing 2016 3-generation family, 3 affected (F, 2M) F;M no United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam5 PubMed: Vissing 2016 3-generation family, 4 affected (2F, 2M) F;M no United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam6 PubMed: Vissing 2016 3-generation family, 1 affected F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam7 PubMed: Vissing 2016 2-generation family, affected mother/daughter F no Norway - - - - - 2 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam8 PubMed: Vissing 2016 3-generation family, affected brother/sister F;M no Norway - - - - - 2 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam9 PubMed: Vissing 2016 2-generation family, affected mother/son/daughter F;M no Sweden - - - - - 3 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Vissing 2016 - - Germline - - - - - DNA SEQ - - LGMD Fam10 PubMed: Vissing 2016 2-generation family, affected mother/daughter F no Sweden - - - - - 2 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Martinez-Thompson 2018 - - Germline - - - - - DNA SEQ - - LGMD Fam1 PubMed: Martinez-Thompson 2018 4-generation family, 12 affected (6F, 7M) F;M no United States Norway - - - - 19 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Martinez-Thompson 2018 - - Germline - - - - - DNA SEQ - - LGMD Fam2 PubMed: Martinez-Thompson 2018 5-generation family, 4 affected (4M) M no United States Germany;Scandinavia - - - - 4 Johan den Dunnen
+/. 5 c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (dominant) g.42681137_42681157del g.42215466_42215486del 643_663del21 - CAPN3_000075 - PubMed: Martinez-Thompson 2018 - - Germline - - - - - DNA SEQ - - LGMD Fam3 PubMed: Martinez-Thompson 2018 2-generation family, 3 affected (F, 2M) F no United States Europe north - - - - 3 Johan den Dunnen
+/. - c.643_663del r.(?) p.(Ser215_Gly221del) Parent #1 - pathogenic (recessive) g.42681136_42681156del g.42388938_42388958del - - CAPN3_000075 - PubMed: Schutz 2017 - - Germline - - - - - DNA SEQ - - LGMD patient PubMed: Schutz 2017 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
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