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Unpublished Variant 20110302019

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: MartinFreitag
MITOMAP list of submitted variants
MITOMASTER allele analysis

Citing this variant:
Freitag, Martin; Dr. Holger Prokisch; Prof. Dr. T. Meitinger, 2011. MITOMAP mtDNA Sequence Data, https://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20110302019

VariantSubmissionForm edit

LastName	Freitag
FirstName	Martin
MiddleName
Email	mtfreitag@googlemail.com
OrganizationName	Humangenetik, Helmholtz-Zentrum, TU M\xFCnchen
OrganizationURL	http://ihg.gsf.de/
Country	Germany
Address
PILastName	Prof. Dr. T. Meitinger
PIFirstName
PIMiddleName
PIEmail	prokisch@helmholtz-muenchen.de
OtherContributor	Dr. Holger Prokisch
PolymorphismPosition	2239
Polymorphism	G
AlleleType	polymorphism
NAChange	A-G
AAChange	rRNA
Locus	MT-RNR2
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele	unclear variant
ComplexCategory
Detection	manual
SampleID	36333
Tissue	muscle
Phenotype	combined complex I + IV deficiency
Ethnicity
Origin
Haplogroup
Comment	potentially pathogenic mutation due to lack of existence in 2704 controls and medium conservation.

Topic revision: r1 - 22 Mar 2013, UnknownUser

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