Unpublished Variant 20140214010

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/20140214010


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 9203
Polymorphism
AlleleType deletion
NAChange deletion of 2 nts
AAChange Frameshift
Locus MT-ATP5
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition 9203
DeletionLength 2
OtherAllele
ComplexCategory
Detection manual
SampleID 12.0136
Tissue blood
Phenotype hypotonia, deafness and pyramidal signs
Ethnicity
Origin
Haplogroup K1b1a1
Comment
Topic revision: r1 - 07 Apr 2014, UnknownUser

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