LastName | Freitag |
FirstName | Martin |
MiddleName | |
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 | 12256 |
Polymorphism | A |
AlleleType | polymorphism |
NAChange | G-A |
AAChange | tRNA |
Locus | MT-TS2 |
InsertPrePosition | |
InsertPostPosition | |
Insert | |
DeletionPosition | |
DeletionLength | |
OtherAllele | probably pathogenic mutation, >95% heteroplasmy |
ComplexCategory | |
Detection | manual |
SampleID | 31673 |
Tissue | muscle |
Phenotype | combined complex I + IV deficiency, Mitochondrial Myopathy |
Ethnicity | |
Origin | |
Haplogroup | |
Comment | beared also G1886A, both variants strong conserved. |