Unpublished Variant 20040217004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
Email 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
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