Screening #0000214743

Individual ID 00213674
Template DNA
Technique DHPLC
Tissue -
Remarks -
Variants found? 4
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 2863 671 2019-10-08 LGMD-2, LGMD-2A, LGMDD-4;LGMD-1I



Variants found

4 entries on 1 page. Showing entries 1 - 4.
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.42694952C>G - - - CAPN3_000378 - PubMed: Krahn 2006 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 12i NM_000070.2:c.1537-40C>G - benign r.spl? p.? - - - - - - - - - - - - - - - - - - -
15 Parent #2 -/. g.42694952C>G - - - CAPN3_000378 - PubMed: Krahn 2006 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 12i NM_000070.2:c.1537-40C>G - benign r.spl? p.? - - - - - - - - - - - - - - - - - - -
15 Parent #1 +/. g.42695170G>A - - - CAPN3_000011 - PubMed: Krahn 2006 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 13 NM_000070.2:c.1715G>A - pathogenic r.(?) p.(Arg572Gln) - - - - - - - - - - - - - - - - - - -
15 Parent #2 +/. g.42695170G>A - - - CAPN3_000011 - PubMed: Krahn 2006 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 13 NM_000070.2:c.1715G>A - pathogenic r.(?) p.(Arg572Gln) - - - - - - - - - - - - - - - - - - -
Legend