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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20020410002 (26 Nov 2012, UnknownUser)
Unpublished Variant 20020410002
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; Komlosi, Katalin; Havasi, Viktoria 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20020410002
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; Komlosi, Katalin; Havasi, Viktoria |
| PolymorphismPosition | 15034 |
| Polymorphism | G |
| AlleleType | polymorphism |
| NAChange | A-G |
| AAChange | syn |
| Locus | MT-CYB |
| Detection | automated |
| SampleID | BI 7.8.1.0.0.6 |
| Tissue | blood |
| Phenotype | Myopathy (unknown), Bilateral Ptosis |
| Ethnicity | Caucasian |
| Origin | Hungary |
| Haplogroup | - |
| Comment | Our patient presented with the following symptoms: muscle weakness,bilateral ptosis, short stature, facial anomalies, mental retardation, radiologic evidence of pituitary hypoplasia. The following polymorphisms were detected in the mitochondrial genome: 14470 T-C, 15310 T-C, none of them cause an amino acid change. The 15034 A-Gpolymorphism was also detected in 5 patients of another family. |
Topic revision: r1 - 26 Nov 2012, UnknownUser
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