 |
|
You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20080520002 (17 Nov 2015, UnknownUser)Edit Attach
Unpublished Variant 20080520002
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://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20080520002
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 | 5558 |
| Polymorphism | G |
| AlleleType | polymorphism |
| NAChange | A-G |
| AAChange | noncod |
| Locus | MT-TW |
| 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 since 2 yr age, 9 yr old female. Samples were collected from Sitapur Eye Hospital, Uttar Pradesh, India. |
Edit | Attach | Print version | History: r1 | Backlinks | View wiki text | Edit wiki text | More topic actions
Topic revision: r1 - 17 Nov 2015, UnknownUser
Copyright © by the contributing authors. All material on this collaboration platform is the property of the contributing authors. Ideas, requests, problems regarding Foswiki? Send feedback