Unpublished Variant 20080520001

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/20080520001

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 5432
Polymorphism G
AlleleType polymorphism
NAChange A-G
AAChange syn
Locus MT-ND2
Detection manual
SampleID Genotox_5
Tissue blood
Phenotype Ptosis, eye pain
Ethnicity Asian
Origin Uttar Pradesh, India
Haplogroup -
Comment Ptosis, eye pain, limited eye movement except the down gaze and eye pain, 20 yr old male. Samples were collected from Sitapur Eye Hospital, Uttar Pradesh, India.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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