Unpublished Variant 20001016001

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:
Aguilera, Isabel K; Fernandez, Olga; Garcia-Lozano, Jose-Raul; Bautista, Juan; Nunez-Roldan, Antonio 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20001016001


VariantSubmissionForm edit

LastName Aguilera
FirstName Isabel
MiddleName K
Email maguiler@cica.es
OrganizationName H.U.Virgen del Rocio
Country Spain
Address Servicio Inmunologia%Manuel Siurot, s/nA013 Sevilla.
PILastName Nunez-Roldan
PIFirstName Antonio
PIEmail anroldan@hvr.sas.cica.es
OtherContributor Fernandez, Olga; Garcia-Lozano, Jose-Raul; Bautista, Juan
PolymorphismPosition 14872
Polymorphism T
AlleleType polymorphism
NAChange C-T
AAChange syn
Locus MT-CYB
Detection automated
SampleID N-1.7.6
Tissue muscle
Phenotype Myopathy
Ethnicity Caucasian
Origin Spain
Haplogroup -
Comment -
Topic revision: r1 - 26 Nov 2012, UnknownUser

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