Individual #00214502

ID_report -
Reference PubMed: Krahn 2007
Remarks -
Gender -
Consanguinity -
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name Johan den Dunnen


Phenotypes

dystrophy, muscular, limb-girdle (LGMD) (LGMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000162954 dystrophic change, marked variation fibre size, necrotic fibres, rare inflammatory foci (macrophages, eosinophils) limb-girdle muscular dystrophy LGMD-2A Unknown - - 13y evolving moderate proximal weakness (upper;lower limbs) IHC LAMA2, EMD, SGCs normal, DYSF irregular, WB CAPN3 absent Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215571 DNA;RNA RT-PCR;DHPLC;SEQ - - CAPN3 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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 #2 +/. g.? - - - CAPN3_000000 no expression of exon 6 sequences PubMed: Krahn 2007 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 5i NM_000070.2:c.? - pathogenic r.(?_802)_(945_?)del p.? - - - - - - - - - - - - - - - - - - -
15 Parent #1 +/. g.42682142G>A - - - CAPN3_000203 RNA 1% of normal PubMed: Krahn 2007 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 5i NM_000070.2:c.802-9G>A - pathogenic r.801_802ins802-7_802-1 p.Leu212Profs*31 - - - - - - - - - - - - - - - - - - -
15 Parent #1 -/. g.42703210del - 2380+12delA - CAPN3_000113 - PubMed: Krahn 2007 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 22i NM_000070.2:c.2380+12del - benign r.spl? p.? - - - - - - - - - - - - - - - - - - -
Legend