Unpublished Variant 20101005001
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.
- Submitted by: MezghaniNajla
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
Citing this variant:
najla, mezghani; fakhfakh, faiza 2010. MITOMAP mtDNA Sequence Data, https://mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20101005001
VariantSubmissionForm edit
| LastName | najla |
| FirstName | mezghani |
| MiddleName | |
| najla.mezghani1980@gmail.com | |
| OrganizationName | lgmh |
| OrganizationURL | |
| Country | Tunisia |
| Address | najla.mezghani1980@gmail.com |
| PILastName | fakhfakh |
| PIFirstName | faiza |
| PIMiddleName | |
| PIEmail | faiza.fakhfakh@gnet.tn |
| OtherContributor | |
| PolymorphismPosition | 1640 |
| Polymorphism | A> G |
| AlleleType | polymorphism |
| NAChange | A-G |
| AAChange | tRNA |
| Locus | MT-TV |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| Detection | automated |
| SampleID | mit 33 |
| Tissue | blood |
| Phenotype | MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, |
| Ethnicity | Africain |
| Origin | Tunisia |
| Haplogroup | |
| Comment | pyramidal syndrome with calcification of basal ganglia and seizures. |
This topic: MITOMAP/Submissions > AlleleExamples > VariantSubmission > VariantSubmissionList > 20101005001
Topic revision: 22 Mar 2013, UnknownUser
Topic revision: 22 Mar 2013, UnknownUser
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