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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20020410001 (26 Nov 2012, UnknownUser)Edit Attach
Unpublished Variant 20020410001
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:
Melegh, Bela; Bene, Judit; Havasi, Viktoria; Komlosi, Katalin 2003. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20020410001
VariantSubmissionForm edit
| LastName | Melegh |
| FirstName | Bela |
| Bela.Melegh@aok.pte.hu | |
| OrganizationName | Dept. of Medical Genetics and Child Development |
| Country | Hungary |
| Address | University of Pecsúculty of Medicine%Szigeti u. 12.%H-7624 Pecs |
| PILastName | Melegh |
| PIFirstName | Bela |
| PIEmail | Bela.Melegh@aok.pte.hu |
| OtherContributor | Bene, Judit; Havasi, Viktoria; Komlosi, Katalin |
| PolymorphismPosition | 3741 |
| Polymorphism | T |
| AlleleType | polymorphism |
| NAChange | C-T |
| AAChange | syn |
| Locus | MT-ND1 |
| Detection | automated |
| SampleID | BK 9.2.0.5.2.1 |
| Tissue | blood |
| Phenotype | MELAS |
| Ethnicity | Caucasian |
| Origin | Hungary |
| Haplogroup | - |
| Comment | Our patient presented with typical symptoms of MELAS disease. The diagnosis was confirmed by radiological examinations and mitochondrial DNA sequence analysis. The mutation at np A3243G was found in a heteroplasmic form. Besides these mutations no other MELAS mutation was found. |
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Topic revision: r1 - 26 Nov 2012, UnknownUser
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