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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20021231012 (26 Nov 2012, UnknownUser)
Unpublished Variant 20021231012
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:
Schuelke, Markus; Krude, H; Finckh, B; Mayatepek, E; Janssen, A; Trefz, F; Trijbels, F; Smeitink, J 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20021231012
VariantSubmissionForm edit
| LastName | Schuelke |
| FirstName | Markus |
| markus.schuelke@charite.de | |
| OrganizationName | Department of Neuropediatrics |
| Country | Germany |
| Address | Humboldt University,%Charite, Virchow University Hospital%Augustenburger Platz 1%D-13353 Berlin |
| PILastName | Schuelke |
| PIFirstName | Markus |
| PIEmail | markus.schuelke@charite.de |
| OtherContributor | Krude, H; Finckh, B; Mayatepek, E; Janssen, A; Trefz, F; Trijbels, F; Smeitink, J |
| PolymorphismPosition | 14849 |
| Polymorphism | C |
| AlleleType | polymorphism |
| NAChange | T-C |
| AAChange | S-P |
| Locus | MT-CYB |
| Detection | automated |
| SampleID | 1.2ack |
| Tissue | muscle |
| Phenotype | Septo-optic Dysplasia |
| Ethnicity | Caucasian |
| Origin | Germany |
| Haplogroup | - |
| Comment | The mutation has been published in: Schuelke M, Krude H, Finckh B, Mayatepek E, Janssen A, Schmelz M, Trefz F, Trijbels F, Smeitink J. Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.Ann Neurol. 2002 Mar;51(3):388-92. PMID: 11891837 |
Topic revision: r1 - 26 Nov 2012, UnknownUser
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