Unpublished Variant 20030723001

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:
Godinot, Catherine; Dubot, Audrey 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20030723001

VariantSubmissionForm edit

LastName Godinot
FirstName Catherine
Email godinot@univ-lyon1.fr
OrganizationName CNRS
Country FRANCE
Address CGMC-CNRS-UCB LYON IC Bd du 11 Novembre i622 VILLEURBANNE
PILastName Godinot
PIFirstName Catherine
PIEmail godinot@univ-lyon1.fr
OtherContributor Dubot, Audrey
PolymorphismPosition 8932
Polymorphism T
AlleleType polymorphism
NAChange C-T
AAChange P-S
Locus MT-ATP6
Detection automated
SampleID BOUS1
Tissue blood
Phenotype Encephalomyopathy plus other symptoms
Ethnicity Caucasian
Origin France
Haplogroup -
Comment Patient has encephalomyopathy, suprarenal insufficiency, ophthalmoplegia, & mental retardation
Topic revision: r1 - 26 Nov 2012, UnknownUser

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