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.

5 entries on 1 page. Showing entries 1 - 5.
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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.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic g.42652080C>T g.42359882C>T - - CAPN3_000053 - PubMed: Richard 1999 - - Germline - - NlaIV- 0 - DNA SEQ - - LGMD - PubMed: Richard 1999 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic g.42652080C>T g.42359882C>T - - CAPN3_000053 - PubMed: Piluso 2005 - - Germline - - NsiI-;BspHi+ 0 - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - 0 - - 1 Johan den Dunnen
+/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic g.42652080C>T g.42359882C>T - - CAPN3_000053 - PubMed: Guglieri 2007 - - Germline - - NlaIV- 0 - DNA SEQ - - LGMD - PubMed: Guglieri 2007 relative of 14663034b-XXXII.2 F - Italy - >43y 0 - - 1 Johan den Dunnen
+/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic g.42652080C>T g.42359882C>T - - CAPN3_000053 - PubMed: Guglieri 2007 - - Germline - - NlaIV- 0 - DNA SEQ - - LGMD - PubMed: Guglieri 2007 relative of 14663034b-XXXII.1 M - Italy - >45y 0 - - 1 Johan den Dunnen
?/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - VUS g.42652080C>T g.42359882C>T - - CAPN3_000053 no second variant in CAPN3 PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
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