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| 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 (#0005051) |
| Patient ID |
SP01M05127011 |
| Disease |
Usher type I (USH1) |
| Reference |
Bonnet et al., 2016, France:Paris |
| Template |
DNA |
| Technique |
SEQ, SEQ-NG-S |
| Remarks |
Proband |
| # Reported |
1 |
| Gender |
Male |
| Geographic origin |
SPAIN |
| Submitter |
Crystel Bonnet |
| Variant data |
| Allele |
Parent #1 |
| Reported pathogenicity |
Probably pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Location |
Exon |
| Exon |
7 |
| DNA change |
c.722G>A (View in UCSC Genome Browser, Ensembl) |
| RNA change |
r.(?) |
| Protein |
p.(Arg241His) |
| Protein Domain |
Motor domain (1-729) |
| Inheritance |
Heterozygous |
| Variant remarks |
UV3 |
| dbSNP/RFC |
rs111033286 |
| Reference |
Bonnet et al., 2016 |
| Reported effect / publication |
mutation |
| Frequency |
- |
| Missense |
USMA MSV3d |
| HSF |
HSF |
| Re-site |
- |
| DB-ID |
MYO7A_00284 |
|
