Unpublished Variant 20110302018

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://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20110302018


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 1886
Polymorphism A
AlleleType polymorphism
NAChange G-A
AAChange rRNA
Locus MT-RNR2
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele potentially pathogenic mutation
ComplexCategory
Detection manual
SampleID 31673
Tissue muscle
Phenotype combined complex I + IV deficiency, Mitochondrial Myopathy
Ethnicity
Origin
Haplogroup
Comment potentially pathogenic mutation.
beared also A12256G, both variants show high conservation.
Topic revision: r1 - 22 Mar 2013, UnknownUser

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