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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #1 - pathogenic g.42652063del g.42359865del 60delA - CAPN3_000052 - Ginjaar WMS2005 - - Germline - - BsrI+ 0 - DNA DGGE - - LGMD - Ginjaar WMS2005 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #2 - pathogenic g.42652063del g.42359865del 60delA - CAPN3_000052 - Ginjaar WMS2005 - - Germline - - BsrI+ 0 - DNA DGGE - - LGMD - Ginjaar WMS2005 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #1 - pathogenic g.42652063del g.42359865del 60delA - CAPN3_000052 - - - - Germline - - BsrI+ 0 - DNA SSCA - - LGMD - - - - - Spain - - 0 - - 1 Amets Sáenz
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #1 - pathogenic g.42652063del g.42359865del 60delA - CAPN3_000052 - PubMed: Richard 1999 - - Germline - - AvaII+ 0 - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #1 - pathogenic g.42652063del g.42359865del 60delA - CAPN3_000052 - PubMed: de Paula - - Germline - - BbvI+ 0 - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula affecteds 2F, 2M F - Brazil - - 0 - - 4 Johan den Dunnen
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #2 - pathogenic g.42652063del g.42359865del 60delA - CAPN3_000052 - - - - Germline - - BsrI+ 0 - DNA SSCA - - LGMD - - - - - Spain - - 0 - - 1 Amets Sáenz
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