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You are here: FoswikiMITOMAP/Submissions WebAlleleExamples > VariantSubmission > VariantSubmissionList20110302019 (22 Mar 2013, UnknownUser)
Unpublished Variant 20110302019
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: MartinFreitag
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
Citing this variant:
Freitag, Martin; Dr. Holger Prokisch; Prof. Dr. T. Meitinger, 2011. MITOMAP mtDNA Sequence Data, https://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20110302019
VariantSubmissionForm edit
| LastName | Freitag |
| FirstName | Martin |
| MiddleName | |
| mtfreitag@googlemail.com | |
| OrganizationName | Humangenetik, Helmholtz-Zentrum, TU M\xFCnchen |
| OrganizationURL | http://ihg.gsf.de/ |
| Country | Germany |
| Address | |
| PILastName | Prof. Dr. T. Meitinger |
| PIFirstName | |
| PIMiddleName | |
| PIEmail | prokisch@helmholtz-muenchen.de |
| OtherContributor | Dr. Holger Prokisch |
| Detection | manual |
| SampleID | 36333 |
| Tissue | muscle |
| Phenotype | combined complex I + IV deficiency |
| Ethnicity | |
| Origin | |
| Haplogroup | |
| Comment | potentially pathogenic mutation due to lack of existence in 2704 controls and medium conservation. |
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Topic revision: r1 - 22 Mar 2013, UnknownUser
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