Unpublished Variant 20110302019

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


Citing this variant:
Freitag, Martin; Dr. Holger Prokisch; Prof. Dr. T. Meitinger, 2011. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/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.
This topic: MITOMAP/Submissions > AlleleExamples > VariantSubmission > VariantSubmissionList > 20110302019
Topic revision: 22 Mar 2013, UnknownUser
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