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.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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.19_23del pathogenic r.(?) p.(Ala7Cysfs*8) Parent #1 g.42652022_42652026del - - - CAPN3_000020 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - HpaII- 0 - DNA SEQ - - LGMD 09150160-T10 PubMed: Richard 1997, PubMed: Dincer 1997 4-generation family, parents 1st cousins, 1 affected M - Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.19_23del pathogenic r.(?) p.(Ala7Cysfs*8) Parent #2 g.42652022_42652026del - - - CAPN3_000020 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - HpaII- 0 - DNA SEQ - - LGMD 09150160-T10 PubMed: Richard 1997, PubMed: Dincer 1997 4-generation family, parents 1st cousins, 1 affected M - Turkey - - 0 - - 1 Johan den Dunnen
Legend