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You are here: Foswiki>MITOMAP/Submissions Web>AlleleExamples>VariantSubmission>VariantSubmissionList>20111230001 (22 Mar 2013, UnknownUser)Edit Attach
Unpublished Variant 20111230001
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.
- Submitted by: ValeriaGuaran
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
Citing this variant:
Guaran, Valeria; Astolfi, 2011. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20111230001
VariantSubmissionForm edit
| LastName | Guaran |
| FirstName | Valeria |
| MiddleName | |
| valeria.guaran@unipd.it | |
| OrganizationName | |
| OrganizationURL | |
| Country | Italy |
| Address | |
| PILastName | Astolfi |
| PIFirstName | |
| PIMiddleName | |
| PIEmail | laura.astolfi@unipd.it |
| OtherContributor | |
| PolymorphismPosition | 712 |
| Polymorphism | A |
| AlleleType | polymorphism |
| NAChange | C-A |
| AAChange | rRNA |
| Locus | MT-RNR1 |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| Detection | manual |
| SampleID | mit184 |
| Tissue | blood |
| Phenotype | non-syndromic hearing impairment |
| Ethnicity | Caucasian |
| Origin | Sardinia |
| Haplogroup | |
| Comment | A1811G and C3546A as well |
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Topic revision: r1 - 22 Mar 2013, UnknownUser
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