Unpublished Variant 20101005001

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


Citing this variant:
najla, mezghani; fakhfakh, faiza 2010. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20101005001


VariantSubmissionForm edit

LastName najla
FirstName mezghani
MiddleName
Email najla.mezghani1980@gmail.com
OrganizationName lgmh
OrganizationURL
Country Tunisia
Address najla.mezghani1980@gmail.com
PILastName fakhfakh
PIFirstName faiza
PIMiddleName
PIEmail faiza.fakhfakh@gnet.tn
OtherContributor
PolymorphismPosition 1640
Polymorphism A> G
AlleleType polymorphism
NAChange A-G
AAChange tRNA
Locus MT-TV
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele
ComplexCategory
Detection automated
SampleID mit 33
Tissue blood
Phenotype MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa,
Ethnicity Africain
Origin Tunisia
Haplogroup
Comment pyramidal syndrome with calcification of basal ganglia and seizures.
Topic revision: r1 - 22 Mar 2013, UnknownUser

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