| 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 (#0002513) |
| Phenotype |
XMPMA |
| Phenotype additional |
MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short |
| Reference |
Windpassinger 2008, JdD |
| Remarks |
male family 18179888 |
| Geographic origin |
Australia |
| Ethnic origin |
- |
| Gender |
M |
| Inheritance |
familial |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
620 |
| Protein data |
- |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
6 |
| Genet_ori |
germline (inherited) |
| DNA change |
c.672C>G (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
- |
| RNA change |
r.(?) |
| Protein change |
p.(Cys224Trp) |
| DB-ID |
FHL1_00011 |
| Variant remarks |
linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes |
| Reference |
Windpassinger 2008, (OMIM 0002) |
| Template |
DNA |
| Technique |
SEQ |
| Frequency |
- |
| RE-site |
- |
|
