Unpublished Variant 20040217004
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:
Komlosi, Katalin; Havasi, Viktoria; Bene, Judit; Melegh, Bela 2003. MITOMAP mtDNA Sequence Data, https://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20040217004
VariantSubmissionForm edit
| LastName | Komlosi |
| FirstName | Katalin |
| katalin.m.komlosi@aok.pte.hu | |
| OrganizationName | Dept. of Medical Genetics and Child Development |
| Country | Hungary |
| Address | Szigeti u. 12, H-7624 |
| PILastName | Melegh |
| PIFirstName | Bela |
| PIEmail | Bela.Melegh@aok.pte.hu |
| OtherContributor | Havasi, Viktoria; Bene, Judit |
| PolymorphismPosition | 15519 |
| Polymorphism | C |
| AlleleType | polymorphism |
| NAChange | T-C |
| AAChange | L-P |
| Locus | MT-CYB |
| Detection | automated |
| SampleID | NK 5.9.0.2.2.2 |
| Tissue | blood |
| Phenotype | Infarct Cerebri Multiplex, more |
| Ethnicity | Caucasian |
| Origin | Hungary |
| Haplogroup | - |
| Comment | Infarct Cerebri Multiplex, myopathy, optic atrophy |
This topic: MITOMAP/Submissions > VariantSubmission > AlleleExamples > VariantSubmission > 20040217004
Topic revision: 26 Nov 2012, UnknownUser
Topic revision: 26 Nov 2012, UnknownUser
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