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 | 7570 |
Polymorphism | G |
AlleleType | polymorphism |
NAChange | A-G |
AAChange | tRNA |
Locus | MT-TD |
InsertPrePosition | |
InsertPostPosition | |
Insert | |
DeletionPosition | |
DeletionLength | |
OtherAllele | |
ComplexCategory | |
Detection | manual |
SampleID | 35803 |
Tissue | muscle |
Phenotype | complex I deficiency |
Ethnicity | |
Origin | |
Haplogroup | |
Comment | potentially pathogenic mutation. |