Individual #00213697

ID_report 09150160-L5988a
Reference PubMed: Richard 1997, OMIM:var0004
Remarks 4-generation partly consanguineous family, 5 affecteds
Gender M
Consanguinity -
Country Lebanon
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 7
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     
0000162149 biopsy minimal abnormalities; CPK elevated (HP:0003236) 7x; lost ability to walk (HP:0006957) 15y limb-girdle muscular dystrophy LGMD-2A Isolated (sporadic) - - 7y polymyositis - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214766 DNA;RNA HD;RT-PCR;SEQ - - CAPN3 2 Johan den Dunnen



Variants

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

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
15 Parent #1 +/. - pathogenic (dominant) g.42652260C>T g.42360062C>T - - CAPN3_000021 - PubMed: Richard 1997, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 1 NM_000070.2:c.257C>T - r.257c>u p.Ser86Phe - - - - - - - - - - - - - - - - - - - -
15 Parent #2 +/. - pathogenic (dominant) g.42652260C>T g.42360062C>T - - CAPN3_000021 - PubMed: Richard 1997, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen CAPN3 - - - - - 1 NM_000070.2:c.257C>T - r.257c>u p.Ser86Phe - - - - - - - - - - - - - - - - - - - -
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