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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>19990308001 (26 Nov 2012, UnknownUser)
Unpublished Variant 19990308001
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: Keith Shields
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
Citing this variant:
Shields, Keith A; Bridge, Peter J 2003. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/19990308001
VariantSubmissionForm edit
| LastName | Shields |
| FirstName | Keith |
| MiddleName | A |
| keith@molecgen.ucalgary.ca | |
| OrganizationName | Molecular Diagnostic Laboratory |
| OrganizationURL | |
| Country | Canada |
| Address | Molecular Diagnostic Lab,Alberta Children's Hospital20 Ricmond Road S.W., Calgary, Alberta, T2T 5C7 |
| PILastName | Bridge |
| PIFirstName | Peter |
| PIMiddleName | J |
| PIEmail | pbridge@molecgen.ucalgary.ca |
| OtherContributor | |
| PolymorphismPosition | 8519 |
| Polymorphism | A |
| AlleleType | polymorphism |
| NAChange | G-A |
| AAChange | E-K |
| Locus | MT-ATP8 |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| Detection | automated |
| SampleID | #4.2.4.2.0 |
| Tissue | blood |
| Phenotype | MELAS plus other symptoms |
| Ethnicity | - |
| Origin | Canada |
| Haplogroup | - |
| Comment | MELAS/Seizures/Autistic behaviour/Developmental delay |
Topic revision: r1 - 26 Nov 2012, UnknownUser
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