Unpublished Variant 20140214012

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


Citing this variant:
Vancampenhout, Kim; Sara Seneca; De Meirleir, Linda 2014. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20140214012


VariantSubmissionForm edit

LastName Vancampenhout
FirstName Kim
MiddleName
Email sara.seneca@uzbrussel.be
OrganizationName CMG, UZ Brussel
OrganizationURL http://www.brusselsgenetics.be
Country Belgium
Address laarbeeklaan
PILastName De Meirleir
PIFirstName Linda
PIMiddleName
PIEmail linda.demeir@uzbrussel.be
OtherContributor Sara Seneca
PolymorphismPosition 7402
Polymorphism
AlleleType deletion
NAChange C-del
AAChange Pro500His + frameshift
Locus MT-CO1
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition 7402
DeletionLength 1
OtherAllele
ComplexCategory
Detection manual
SampleID 11.1191
Tissue muscle
Phenotype isolated complex IV deficiency
Ethnicity Caucasian
Origin Belgium
Haplogroup H6a1b4
Comment
Topic revision: r1 - 07 Apr 2014, UnknownUser

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