Unpublished Variant 20060227001

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


Citing this variant:
Bai, Renkui; Dwight Yim, Haeyoung Kwon, Marla M. Vacek, Janice Zane, Charles L. Hoppel, Douglas S. Kerr; Wong, Lee-Jun C. 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20060227001


VariantSubmissionForm edit

LastName Bai
FirstName Renkui
MiddleName
Email bai@bcm.tmc.edu
OrganizationName Baylor College of Medicine
OrganizationURL
Country USA
Address One Baylor Plaza, Houston, TX 77030, Building: BCM-Ben Taub Research Center, Room: BCMT-T540
PILastName Wong
PIFirstName Lee-Jun
PIMiddleName C.
PIEmail ljwong@bcm.tmc.edu
OtherContributor Dwight Yim, Haeyoung Kwon, Marla M. Vacek, Janice Zane, Charles L. Hoppel, Douglas S. Kerr
PolymorphismPosition 12207
Polymorphism A
AlleleType polymorphism
NAChange G-A
AAChange tRNA
Locus MT-TS2
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele
ComplexCategory
Detection automated
SampleID mt3.0.0.5
Tissue muscle
Phenotype Mixed MELAS/MERRF
Ethnicity Chinese mother and Caucasian father
Origin Canada
Haplogroup -
Comment Mixed MELAS/MERRF clinical features
Topic revision: r1 - 29 Mar 2013, UnknownUser

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