Unpublished Variant 20050803001

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:
Maasz, Anita; Komlosi, Katalin; Havasi, Viktoria; Melegh, Bela 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20050803001


VariantSubmissionForm edit

LastName Maasz
FirstName Anita
Email anita.maasz@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 Komlosi, Katalin; Havasi, Viktoria
PolymorphismPosition 12557
Polymorphism T
AlleleType polymorphism
NAChange C-T
AAChange T-I
Locus MT-ND5
Detection automated
SampleID DMB 7.7.0.3.0.8
Tissue blood
Phenotype Encephalomyopathy
Ethnicity Caucasian
Origin Hungary
Haplogroup -
Comment -
Topic revision: r1 - 26 Nov 2012, UnknownUser

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