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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20080520004 (26 Nov 2012, UnknownUser)
Unpublished Variant 20080520004
This is a record of an observed human mtDNA variant submitted to MITOMAP- Submitters may return to this page at any time to update the information. Submitters who wish to amend a record submitted before November 2009 must register and send an email to mitomap@email.chop.edu to obtain editing privileges on the page.
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
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 |
| MiddleName | |
| ashoksingh2278@gmail.com | |
| OrganizationName | Central Drug Research Institute |
| OrganizationURL | |
| 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 |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| 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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