| 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 (#0000701) |
| Phenotype |
muscular dystrophy, congenital, Fukuyama type (FCMD) |
| Phenotype additional |
- |
| Reference |
JdD |
| Remarks |
80 patients common ancestor, variant present in 125/144 87% FCMD alleles (D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183); RNA near undetectable |
| Geographic origin |
Japan |
| Ethnic origin |
- |
| Gender |
- |
| Inheritance |
unknown |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
80 |
| CK level |
- |
| Protein data |
- |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Parent #1 |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
11 |
| DNA change |
c.*4392_*4393insAB185332.1 (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
- |
| RNA change |
r.0 |
| Protein change |
p.? |
| DB-ID |
FKTN_00001 |
| Variant remarks |
- |
| Genet_ori |
germline (inherited) |
| Reference |
Kobayashi 1998, Kondo-Iida 1999, (OMIM 0001) |
| Template |
DNA, RNA |
| Technique |
SEQ, Northern |
| Frequency |
- |
| RE-site |
- |
|
