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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20060130006 (26 Nov 2012, UnknownUser)
Unpublished Variant 20060130006
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:
Mihailova, Snejina; Naumova, Elissaveta 2003. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20060130006
VariantSubmissionForm edit
| LastName | Mihailova |
| FirstName | Snejina |
| immun@alexandrovska-hospital.bg | |
| OrganizationName | Central Laboratory of Clinical Immunology |
| Country | Bulgaria |
| Address | University Hospital Alexandrovska%1 G.Sofiisky Str%Sofia 1431 |
| PILastName | Naumova |
| PIFirstName | Elissaveta |
| PIEmail | immun@alexandrovska-hospital.bg |
| PolymorphismPosition | 8538 |
| Polymorphism | C |
| AlleleType | polymorphism |
| NAChange | T-C |
| AAChange | syn |
| Locus | MT-ATP6 |
| Detection | automated |
| SampleID | DGP |
| Tissue | blood |
| Phenotype | Myopathy |
| Ethnicity | Caucasian |
| Origin | Bulgaria |
| Haplogroup | - |
| Comment | This mutation is in the ATP8-ATP6 overlap region. Additional polymorphisms tested:G11914A;T11944C |
Topic revision: r1 - 26 Nov 2012, UnknownUser
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