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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20050331001 (11 Jun 2013, UnknownUser)
Unpublished Variant 20050331001
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:
Tikhomirov, Eugeny; Baranov, Alexandr 2003. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20050331001
VariantSubmissionForm edit
| LastName | Tikhomirov |
| FirstName | Eugeny |
| MiddleName | |
| tikhomirov@nczd.ru | |
| OrganizationName | Scientific Centre of Children's Health |
| OrganizationURL | |
| Country | Russia |
| Address | Lomonosovskij Prospect 2/63 |
| PILastName | Baranov |
| PIFirstName | Alexandr |
| PIMiddleName | |
| PIEmail | baranov@nczd.ru |
| OtherContributor | |
| PolymorphismPosition | 521 |
| Polymorphism | insCA |
| AlleleType | insertion |
| NAChange | CA-CACA |
| AAChange | non-coding |
| Locus | Control Region |
| InsertPrePosition | 514 |
| InsertPostPosition | 515 |
| Insert | ACA |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| Detection | automated |
| SampleID | 1.SMI 2, BEL |
| Tissue | blood |
| Phenotype | Leigh Syndrome |
| Ethnicity | Russian |
| Origin | Moscow Russia |
| Haplogroup | - |
| Comment | Note: 521insCA=514insCA Two patients: SMI has G498A too |
Topic revision: r1 - 11 Jun 2013, UnknownUser
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