Unpublished Variant 20061011002

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:
Blok, Rien; Smeets, Bert 2003. MITOMAP mtDNA Sequence Data, https://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20061011002

VariantSubmissionForm edit

LastName Blok
FirstName Rien
Email rien.blok@gen.unimaas.nl
OrganizationName Clinical Genetics, University Hospital Maastricht
Country the Netherlands
Address P. Debyelaan 1, 6202 AZ, Maastricht
PILastName Smeets
PIFirstName Bert
PIEmail bert.smeets@molcelb.unimaas.nl
PolymorphismPosition 13511
Polymorphism T
AlleleType polymorphism
NAChange A-T
AAChange K-M
Locus MT-ND5
Detection DHPLC
SampleID #
Tissue muscle
Phenotype Leigh Syndrome
Ethnicity Caucasian
Origin Netherlands
Haplogroup unknown
Comment Complex I, III reduced in muscle
Topic revision: r1 - 26 Nov 2012, UnknownUser

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