Unpublished Variant 20061011002
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:
Blok, Rien; Smeets, Bert 2003. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20061011002
VariantSubmissionForm edit
| LastName | Blok |
| FirstName | Rien |
| rien.blok@gen.unimaas.nl | |
| OrganizationName | Clinical Genetics, University Hospital Maastricht |
| Country | the Netherlands |
| Address | P. Debyelaan 1, 6202 AZ, Maastricht |
| PILastName | Smeets |
| PIFirstName | Bert |
| PIEmail | bert.smeets@molcelb.unimaas.nl |
| PolymorphismPosition | 13511 |
| Polymorphism | T |
| AlleleType | polymorphism |
| NAChange | A-T |
| AAChange | K-M |
| Locus | MT-ND5 |
| Detection | DHPLC |
| SampleID | #6.6.0.4 |
| Tissue | muscle |
| Phenotype | Leigh Syndrome |
| Ethnicity | Caucasian |
| Origin | Netherlands |
| Haplogroup | unknown |
| Comment | Complex I, III reduced in muscle |
This topic: MITOMAP/Submissions > VariantSubmission > AlleleExamples > VariantSubmission > 20061011002
Topic revision: 26 Nov 2012, UnknownUser
Topic revision: 26 Nov 2012, UnknownUser
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