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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20081106002 (17 Nov 2015, UnknownUser)
Unpublished Variant 20081106002
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:
Padma, Gunda; Ramchander, P. V. 2008. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20081106002
VariantSubmissionForm edit
| LastName | Padma |
| FirstName | Gunda |
| MiddleName | |
| padma.genetics@gmail.com | |
| OrganizationName | OSMANIA UNIVERSITY |
| OrganizationURL | |
| Country | India |
| Address | DEPARTMENT OF GENETICS, OSMANIA UNIVERSITY, HYDERABAD-500007 |
| PILastName | Padma |
| PIFirstName | Tirunilai |
| PIMiddleName | |
| PIEmail | padmatirunilai@gmail.com |
| OtherContributor | Ramchander, P. V. |
| PolymorphismPosition | 1508 |
| Polymorphism | T |
| AlleleType | polymorphism |
| NAChange | C-T |
| AAChange | noncod |
| Locus | MT-RNR1 |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| Detection | automated |
| SampleID | Hyd-4; Hyd-5 |
| Tissue | blood |
| Phenotype | Non-Syndromic Hearing Impairment (NSHI) |
| Ethnicity | Hindu |
| Origin | India |
| Haplogroup | - |
| Comment | THE MUTATION C-T IS FOUND AT POSITION 1508 IN MTRNR1 GENE IN THE SAMPLES Hyd-4 AND Hyd-5 WHICH ARE FAMILIAL CASES WITH DISTANT RELATIVES AFFECTED WITH HEARING IMPAIRMENT. PARENTS OF BOTH THE CASES ARE FIRST COUSINS. |
Topic revision: r1 - 17 Nov 2015, UnknownUser
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