| 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 (#0014172) |
| Phenotype |
NEM-2 |
| Phenotype additional |
typical; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth |
| Reference |
Wallgren-Pettersson 1998, JdD |
| Remarks |
FAM21 (Fam4, 1999), German family, Turkish descent, unaffected parents |
| Geographic origin |
Turkey |
| Ethnic origin |
- |
| Gender |
? |
| Inheritance |
isolated (sporadic) |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
2 |
| CK level |
- |
| Protein data |
IHC coexpression of slow, fast and fetal myosin isoforms, differences with M176-181 antibody |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Maternal (inferred) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
154 |
| DNA change |
c.22584G>C (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
ex163 G>C codon 5792 |
| RNA change |
r.[22444_22548del, 22548_22549ins22548+1_22548+100] |
| Protein change |
p.[Val7494_Gln7528del, Gln7528Hisins*12] |
| DB-ID |
NEB_00005 |
| Variant remarks |
not in 200 control chromosomes |
| Genet_ori |
germline (inherited) |
| Reference |
Pelin 1999, Lehtokari 2006, (OMIM 0006) |
| Template |
DNA, RNA |
| Technique |
RT-PCR, SEQ, SSCA |
| Frequency |
- |
| RE-site |
- |
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