Unpublished Variant 20071014002

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


Citing this variant:
Hofste, Tom; Hol, F. 2007. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20071014002


VariantSubmissionForm edit

LastName Hofste
FirstName Tom
MiddleName
Email T.Hofste@antrg.umcn.nl
OrganizationName The Radboud University Nijmegen Medical Centre
OrganizationURL
Country USA
Address
PILastName Hol
PIFirstName F.
PIMiddleName
PIEmail f.hol@antrg.umcn.nl
OtherContributor
PolymorphismPosition 8529
Polymorphism A
AlleleType polymorphism
NAChange G-A
AAChange syn
Locus MT-ATP6
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele
ComplexCategory
Detection manual
SampleID DNA05-03.8.1.2
Tissue blood
Phenotype .
Ethnicity .
Origin .
Haplogroup -
Comment This mutation is in the ATP8-ATP6 overlap region. Although a silent mutation in ATP6, this same mutation causes W-Ter in ATP8.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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