Unpublished Variant 20140214024

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://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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