| 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 (#0009098) |
| Phenotype |
dystrophy, muscular, congenital, type 1A (MDC-1A) |
| Phenotype additional |
proximal weakness with mild progression, facial/bulbar paresis, severe scoliosis (0.9y), nocturnal ventilation (0.3y); contractures generalized; no seizures; MRI brain white matter changes, no gyral abnormalities |
| Reference |
Portugal:Porto |
| Remarks |
- |
| Geographic origin |
Portugal |
| Ethnic origin |
- |
| Gender |
M |
| Inheritance |
isolated (sporadic) |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
840 |
| Protein data |
IHC no LAMA2 |
| Submitter |
Rosário dos Santos |
| Variant data |
| Allele |
Parent #2 |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
55i |
| DNA change |
c.7750-1713_7899-2154del (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
7750-1713_7899-2153del |
| RNA change |
r.(spl?) |
| Protein change |
p.(Ala2584Hisfs*8) |
| DB-ID |
LAMA2_00149 |
| Variant remarks |
- |
| Genet_ori |
germline (inherited) |
| Reference |
Oliveira 2008 |
| Template |
DNA |
| Technique |
SEQ |
| Frequency |
- |
| RE-site |
- |
|
