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You are here: Foswiki>MITOMAP/Submissions Web>AlleleExamples>VariantSubmission>VariantSubmissionList>20110302018 (22 Mar 2013, UnknownUser)Edit Attach
Unpublished Variant 20110302018
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://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20110302018
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 |
| PolymorphismPosition | 1886 |
| Polymorphism | A |
| AlleleType | polymorphism |
| NAChange | G-A |
| AAChange | rRNA |
| Locus | MT-RNR2 |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | potentially pathogenic mutation |
| ComplexCategory | |
| Detection | manual |
| SampleID | 31673 |
| Tissue | muscle |
| Phenotype | combined complex I + IV deficiency, Mitochondrial Myopathy |
| Ethnicity | |
| Origin | |
| Haplogroup | |
| Comment | potentially pathogenic mutation. beared also A12256G, both variants show high conservation. |
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Topic revision: r1 - 22 Mar 2013, UnknownUser
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