Unpublished Variant 20020410001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://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20020410001

VariantSubmissionForm edit

LastName Melegh
FirstName Bela
Email Bela.Melegh@aok.pte.hu
OrganizationName Dept. of Medical Genetics and Child Development
Country Hungary
Address University of PecsĂșculty 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
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.
Topic revision: r1 - 26 Nov 2012, UnknownUser

POLG Server

This site is powered by FoswikiCopyright © by the contributing authors. All material on this collaboration platform is the property of the contributing authors.
Ideas, requests, problems regarding Foswiki? Send feedback