Unpublished Variant 20021231011

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 M; Havasi, Viktoria; Bene, Judit; Melegh, Bela 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20021231011

VariantSubmissionForm edit

LastName Komlosi
FirstName Katalin
MiddleName M
Email Katalin.M.Komlosi@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 Havasi, Viktoria; Bene, Judit
PolymorphismPosition 9410
Polymorphism G
AlleleType polymorphism
NAChange A-G
AAChange syn
Locus MT-CO3
Detection automated
SampleID CSI
Tissue blood
Phenotype Myopathy
Ethnicity Caucasian
Origin Hungary
Haplogroup -
Comment The patient also carried a G9477A polymorphism in the MT-CO3 gene.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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