 |
|
You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20030723002 (26 Nov 2012, UnknownUser)Edit Attach
Unpublished Variant 20030723002
This is a record of an observed human mtDNA variant submitted to MITOMAP- Submitters may return to this page at any time to update the information. Submitters who wish to amend a record submitted before November 2009 must register and send an email to mitomap@email.chop.edu to obtain editing privileges on the page.
- Submitted by: Dhananjaya Saranath
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
Citing this variant:
Godinot, Catherine; Dubot, Audrey 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20030723002
VariantSubmissionForm edit
| LastName | Godinot |
| FirstName | Catherine |
| godinot@univ-lyon1.fr | |
| OrganizationName | CNRS |
| Country | FRANCE |
| Address | CGMC-CNRS-UCB LYON IC Bd du 11 Novembre i622 VILLEURBANNE |
| PILastName | Godinot |
| PIFirstName | Catherine |
| PIEmail | godinot@univ-lyon1.fr |
| OtherContributor | Dubot, Audrey |
| PolymorphismPosition | 8527 |
| Polymorphism | G |
| AlleleType | polymorphism |
| NAChange | A-G |
| AAChange | M-V |
| Locus | MT-ATP6 |
| Detection | automated |
| SampleID | BOUS1 |
| Tissue | muscle |
| Phenotype | Encephalomyopathy plus other symptoms |
| Ethnicity | Caucasian |
| Origin | France |
| Haplogroup | - |
| Comment | This mutation is in the ATP8-ATP6 overlap region. Patient has encephalomyopathy, suprarenal insufficiency, ophthalmoplegia & mental retardation. |
Edit | Attach | Print version | History: r1 | Backlinks | View wiki text | Edit wiki text | More topic actions
Topic revision: r1 - 26 Nov 2012, UnknownUser
Copyright © by the contributing authors. All material on this collaboration platform is the property of the contributing authors. Ideas, requests, problems regarding Foswiki? Send feedback