| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0025238) |
| Phenotype |
dystrophy, muscular, limb-girdle (LGMD) |
| Phenotype additional |
calve hypertrophy; functional grade 3 |
| Reference |
Tunisia:Sfax |
| Remarks |
5-generation family, branches with CAPN3 and LAMA2 variants |
| Geographic origin |
Tunisia |
| Ethnic origin |
- |
| Gender |
F |
| Inheritance |
familial, autosomal recessive |
| Consanguinity |
yes |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
2522 |
| Protein data |
- |
| Submitter |
Nacim Louhichi |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
12i |
| DNA change |
c.1536+1G>T (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
- |
| RNA change |
r.1536_1537ins1536+1_1537-1{1536+1G>T} |
| Protein change |
p.Met513Ilefs*2 |
| DB-ID |
CAPN3_00407 |
| Variant remarks |
- |
| Genet_ori |
germline (inherited) |
| Reference |
ESHG2010 Hadj Salem P12.119, HadjSamen 2011 |
| Template |
DNA, RNA |
| Technique |
RT-PCR, SEQ |
| Frequency |
- |
| RE-site |
- |
|
