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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20030723003 (26 Nov 2012, UnknownUser)Edit Attach
Unpublished Variant 20030723003
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://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20030723003
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 | syn |
| Locus | MT-ATP8 |
| 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. |
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Topic revision: r1 - 26 Nov 2012, UnknownUser
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