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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20071014002 (26 Nov 2012, UnknownUser)
Unpublished Variant 20071014002
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.
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
Citing this variant:
Hofste, Tom; Hol, F. 2007. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20071014002
VariantSubmissionForm edit
| LastName | Hofste |
| FirstName | Tom |
| MiddleName | |
| T.Hofste@antrg.umcn.nl | |
| OrganizationName | The Radboud University Nijmegen Medical Centre |
| OrganizationURL | |
| Country | USA |
| Address | |
| PILastName | Hol |
| PIFirstName | F. |
| PIMiddleName | |
| PIEmail | f.hol@antrg.umcn.nl |
| OtherContributor | |
| PolymorphismPosition | 8529 |
| Polymorphism | A |
| AlleleType | polymorphism |
| NAChange | G-A |
| AAChange | syn |
| Locus | MT-ATP6 |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| Detection | manual |
| SampleID | DNA05-03.8.1.2 |
| Tissue | blood |
| Phenotype | . |
| Ethnicity | . |
| Origin | . |
| Haplogroup | - |
| Comment | This mutation is in the ATP8-ATP6 overlap region. Although a silent mutation in ATP6, this same mutation causes W-Ter in ATP8. |
Topic revision: r1 - 26 Nov 2012, UnknownUser
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