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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20021231013 (26 Nov 2012, UnknownUser)Edit Attach
Unpublished Variant 20021231013
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:
Havasi, Viktoria; Havasi, Viktoria; Bene, Judit; Melegh, Bela 2003. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20021231013
VariantSubmissionForm edit
| LastName | Havasi |
| FirstName | Viktoria |
| viktoria.havasi@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 | Havasi, Viktoria; Bene, Judit |
| PolymorphismPosition | 3360 |
| Polymorphism | G |
| AlleleType | polymorphism |
| NAChange | A-G |
| AAChange | syn |
| Locus | MT-ND1 |
| Detection | automated |
| SampleID | SS 0004.2.6 |
| Tissue | blood |
| Phenotype | Leucodystrophy |
| Ethnicity | Caucasian |
| Origin | Hungary |
| Haplogroup | - |
| Comment | The mutation was detected during the laboratory examination of a patient with nonspecific neuromuscular symptoms. |
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Topic revision: r1 - 26 Nov 2012, UnknownUser
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