Unpublished Variant 20050331001

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


Citing this variant:
Tikhomirov, Eugeny; Baranov, Alexandr 2003. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20050331001


VariantSubmissionForm edit

LastName Tikhomirov
FirstName Eugeny
MiddleName
Email tikhomirov@nczd.ru
OrganizationName Scientific Centre of Children's Health
OrganizationURL
Country Russia
Address Lomonosovskij Prospect 2/63
PILastName Baranov
PIFirstName Alexandr
PIMiddleName
PIEmail baranov@nczd.ru
OtherContributor
PolymorphismPosition 521
Polymorphism insCA
AlleleType insertion
NAChange CA-CACA
AAChange non-coding
Locus Control Region
InsertPrePosition 514
InsertPostPosition 515
Insert ACA
DeletionPosition
DeletionLength
OtherAllele
ComplexCategory
Detection automated
SampleID 1.SMI 2, BEL
Tissue blood
Phenotype Leigh Syndrome
Ethnicity Russian
Origin Moscow Russia
Haplogroup -
Comment Note: 521insCA=514insCA
Two patients: SMI has G498A too
Topic revision: r1 - 11 Jun 2013, UnknownUser

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