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You are here: Foswiki>MITOMAP/Submissions Web>AlleleExamples>VariantSubmission>VariantSubmissionList>20140214010 (07 Apr 2014, UnknownUser)
Unpublished Variant 20140214010
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: KimVancampenhout
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
Citing this variant:
Vancampenhout, Kim; Sara Seneca; De Meirleir, Linda 2014. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20140214010
VariantSubmissionForm edit
| LastName | Vancampenhout |
| FirstName | Kim |
| MiddleName | |
| sara.seneca@uzbrussel.be | |
| OrganizationName | CMG, UZ Brussel |
| OrganizationURL | http://www.brusselsgenetics.be |
| Country | Belgium |
| Address | laarbeeklaan |
| PILastName | De Meirleir |
| PIFirstName | Linda |
| PIMiddleName | |
| PIEmail | linda.demeir@uzbrussel.be |
| OtherContributor | Sara Seneca |
| PolymorphismPosition | 9203 |
| Polymorphism | |
| AlleleType | deletion |
| NAChange | deletion of 2 nts |
| AAChange | Frameshift |
| Locus | MT-ATP5 |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | 9203 |
| DeletionLength | 2 |
| OtherAllele | |
| ComplexCategory | |
| Detection | manual |
| SampleID | 12.0136 |
| Tissue | blood |
| Phenotype | hypotonia, deafness and pyramidal signs |
| Ethnicity | |
| Origin | |
| Haplogroup | K1b1a1 |
| Comment |
Topic revision: r1 - 07 Apr 2014, UnknownUser
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