Unpublished Variant 20021231013

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:
Havasi, Viktoria; Havasi, Viktoria; Bene, Judit; Melegh, Bela 2003. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20021231013

VariantSubmissionForm edit

LastName Havasi
FirstName Viktoria
Email viktoria.havasi@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 3360
Polymorphism G
AlleleType polymorphism
NAChange A-G
AAChange syn
Locus MT-ND1
Detection automated
SampleID SS 0004.2.6
Tissue blood
Phenotype Leucodystrophy
Ethnicity Caucasian
Origin Hungary
Haplogroup -
Comment The mutation was detected during the laboratory examination of a patient with nonspecific neuromuscular symptoms.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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