Screening #0000214718

Individual ID 00213649
Template DNA
Technique PCR
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CAPN3 calpain 3, (p94) 15 q15.1 1 2864 671 2019-12-10 LGMD-2, LGMD-2A, LGMDD-4;LGMD-1I



Variants found

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

Chr     

Allele     

Effect     

AscendingDNA 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     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
15 Parent #1 +/. g.42680002del - 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 4 NM_000070.2:c.550del - pathogenic r.(?) p.(Thr184Argfs*36) - - - - - - - - - - - - - - - - - - -
15 Parent #2 +/. g.42680002del - 550delA - CAPN3_000010 - PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 4 NM_000070.2:c.550del - pathogenic r.(?) p.(Thr184Argfs*36) - - - - - - - - - - - - - - - - - - -
Legend