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Unpublished Variant 20140214024

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

Submitters may return to this page at any time to update the information. Submitters who wish to amend a record submitted before November 2009 must register and send an email to mitomap@email.chop.edu to obtain editing privileges on the page.
Submitted by: KimVancampenhout
MITOMAP list of submitted variants
MITOMASTER allele analysis

Citing this variant:
Vancampenhout, Kim; Sara Seneca; De Meirleir, Linda 2014. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20140214024

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	10224
Polymorphism
AlleleType	deletion
NAChange	deletion of 2380 nts
AAChange
Locus	MT-ND3 and following
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition	10224
DeletionLength	2380
OtherAllele
ComplexCategory
Detection	manual
SampleID	12.3858
Tissue	muscle
Phenotype	Kearns-Sayre syndrome
Ethnicity	Caucasian
Origin	Belgium
Haplogroup	H11a2+T16092
Comment

Topic revision: r1 - 07 Apr 2014, UnknownUser

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