Unpublished Variant 20080520004

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

Citing this variant:
Singh, Ashok; Ajit Kumar Paul, Amit Kumar Mitra, Pratibha Mishra, Sharad Sharma; Rath, Srikanta Kumar 2008. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20080520004

VariantSubmissionForm edit

LastName Singh
FirstName Ashok
Email ashoksingh2278@gmail.com
OrganizationName Central Drug Research Institute
Country India
Address Toxicology Division, Central Drug Research Institute, Lucknow, Uttar Pradesh, India, 226 001
PILastName Rath
PIFirstName Srikanta
PIMiddleName Kumar
PIEmail skrath@cdri.res.in
OtherContributor Ajit Kumar Paul, Amit Kumar Mitra, Pratibha Mishra, Sharad Sharma
PolymorphismPosition 12705
Polymorphism T
AlleleType polymorphism
NAChange C-T
AAChange syn
Locus MT-ND5
Detection manual
SampleID Genotox_2
Tissue blood
Phenotype Ophthalmoparesis, single eye ptosis
Ethnicity Asian
Origin Uttar Pradesh, India
Haplogroup -
Comment Ophthalmoparesis, limited eye movement in all gazes except abduction, single eye ptosis at the age of 2 yr, 9 yr old female. Samples were collected from Sitapur Eye Hospital, Uttar Pradesh, India.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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