Individual #00102539

ID_report 20477750-PatIV14
Reference -
Remarks 5-generation family, branches with CAPN3 and LAMA2 variants
Gender M
Consanguinity yes
Country Tunisia
Population -
Age at death >38y (later than 38 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LGMD
Owner name Nacim Louhichi


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     
0000080715 dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 337; wheelchair bound 33y - - Familial, autosomal recessive - - 16y - - Nacim Louhichi



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000102990 DNA;RNA RT-PCR;SEQ - - CAPN3, LAMA2 1 Nacim Louhichi



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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 Both (homozygous) +/. - pathogenic g.42694334G>T g.42402136G>T - - CAPN3_000407 - ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 - - Germline yes - - 0 - Johan den Dunnen CAPN3 - - - - - 12i NM_000070.2:c.1536+1G>T - r.1536_1537insuins1536+2_1537-1 p.Met513Ilefs*2 - - - - - - - - - - - - - - - - - - - -
Legend   How to query