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.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.133G>A pathogenic r.133g>a p.Ala45Thr Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat1/3 PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >48y 0 - - 1 Johan den Dunnen
+/. 1 c.133G>A pathogenic r.133g>a p.Ala45Thr Parent #2 g.42652136G>A - - - CAPN3_000167 - PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat1/3 PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >48y 0 - - 1 Johan den Dunnen
?/. 1 c.133G>A VUS r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - - - - - - 0 - - 1 Ieke Ginjaar
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #2 g.42652136G>A - - - CAPN3_000167 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - F - Germany - - 0 - - 1 Lab Müller-Reible
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #2 g.42652136G>A - - - CAPN3_000167 - PubMed: Krahn 2006 - - Germline - - - 0 - DNA DHPLC - - LGMD Pat63 PubMed: Krahn 2006, OMIM:var0006 - F - France - - 0 - - 1 Johan den Dunnen
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #2 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Unknown g.42652136G>A - - - CAPN3_000167 from website {DBsub-Emory} - - - Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
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