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.

13 entries on 1 page. Showing entries 1 - 13.
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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.96T>C r.(?) p.(Thr32=) Unknown - benign g.42652099T>C g.42359901T>C CAPN3(NM_000070.2):c.96T>C (p.T32=, p.=) - CAPN3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 1 c.96T>C r.(?) p.(=) Parent #2 - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - DNA SEQ - - LGMD - - - M - Germany - - 0 - - 1 Lab Müller-Reible
-?/. 1 c.96T>C r.(?) p.(=) Parent #1 - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - DNA SEQ - - LGMD - - - F - Germany - - 0 - - 1 Lab Müller-Reible
-?/. 1 c.96T>C r.(?) p.(=) Parent #1 - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - DNA SEQ - - ? - - - M - Germany - - 0 - - 1 Lab Müller-Reible
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Richard 1995 - rs1801496 Germline - - HhaI-;AluI+ 0 - DNA HD, SEQ - - LGMD 07720071-M31 PubMed: Richard 1995 - - - France - - 0 - - 1 Johan den Dunnen
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Piluso 2005 - rs1801496 Germline - - HaeIII- 0 - DNA SEQ - - ? - PubMed: Piluso 2005 - - - Italy - - 0 - - 1 Johan den Dunnen
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Saenz 2005 - rs1801496 Germline - 0.12 HhaI-;AluI+ 0 - DNA SEQ - - ? - PubMed: Saenz 2005 - - - Spain - - 0 - - 1 Johan den Dunnen
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - HhaI-;HgiaI+ 0 - DNA SEQ - - ? - - - - - Netherlands - - 0 - - 26 Ieke Ginjaar
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Krahn 2006 - rs1801496 Germline - 11/42 HhaI-;HgiaI+ 0 - DNA DHPLC, SEQ - - LGMD - PubMed: Krahn 2006 - - - France - - 0 - - 11 Johan den Dunnen
-?/. 1 c.96T>C r.(?) p.(=) Unknown - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - DNA SEQ - - MD - - - F - - - - 0 - - 1 Rosetta Marotta
-/. 1 c.96T>C r.(?) p.(=) Unknown - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 from website {DBsub-Emory} - - rs1801496 Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.96T>C r.(?) p.(=) Unknown - VUS g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Unknown - - - 0 - DNA SEQ - - LGMD - Pathak P 2009 - M no India - - 0 - - 1 Pankaj Pathak
-/. - c.96T>C r.(?) p.(Thr32=) Unknown - benign g.42652099T>C g.42359901T>C CAPN3(NM_000070.2):c.96T>C (p.T32=, p.=) - CAPN3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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