Unpublished Variant 20011206002

This is a record of an observed human mtDNA variant submitted to MITOMAP

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  • Submitted by: Dhananjaya Saranath
  • MITOMAP list of submitted variants
  • MITOMASTER allele analysis


Citing this variant:
Melegh, Bela; Bene, Judit; Ghosh, Meenakshi 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20011206002


VariantSubmissionForm edit

LastName Melegh
FirstName Bela
Email Bela.Melegh@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 Bene, Judit; Ghosh, Meenakshi
PolymorphismPosition 15016
Polymorphism T
AlleleType polymorphism
NAChange C-T
AAChange syn
Locus MT-CYB
Detection automated
SampleID TJ 5.5.0.7.0.6
Tissue blood
Phenotype Myopathy (unknown)
Ethnicity Caucasian
Origin Hungary
Haplogroup -
Comment In the patient G15257A and G15326A mutations were also detected.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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