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Unpublished Variant 19990308001

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: Keith Shields
  • MITOMAP list of submitted variants
  • MITOMASTER allele analysis

Citing this variant:
Shields, Keith A; Bridge, Peter J 2003. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/19990308001

VariantSubmissionForm edit

LastName Shields
FirstName Keith
MiddleName A
Email keith@molecgen.ucalgary.ca
OrganizationName Molecular Diagnostic Laboratory
OrganizationURL
Country Canada
Address Molecular Diagnostic Lab,Alberta Children's Hospital20 Ricmond Road S.W., Calgary, Alberta, T2T 5C7
PILastName Bridge
PIFirstName Peter
PIMiddleName J
PIEmail pbridge@molecgen.ucalgary.ca
OtherContributor
PolymorphismPosition 8519
Polymorphism A
AlleleType polymorphism
NAChange G-A
AAChange E-K
Locus MT-ATP8
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele
ComplexCategory
Detection automated
SampleID #4.2.4.2.0
Tissue blood
Phenotype MELAS plus other symptoms
Ethnicity -
Origin Canada
Haplogroup -
Comment MELAS/Seizures/Autistic behaviour/Developmental delay
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Topic revision: r1 - 26 Nov 2012, UnknownUser
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