Unpublished Variant 20081106001

This is a record of an observed human mtDNA variant submitted to MITOMAP


Citing this variant:
Padma, Gunda; Ramchander, P. V. 2008. MITOMAP mtDNA Sequence Data, https://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20081106001


VariantSubmissionForm edit

LastName Padma
FirstName Gunda
MiddleName
Email 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 1462
Polymorphism A
AlleleType polymorphism
NAChange G-A
AAChange noncod
Locus MT-RNR1
InsertPrePosition
InsertPostPosition
Insert
DeletionPosition
DeletionLength
OtherAllele
ComplexCategory
Detection automated
SampleID Hyd-3
Tissue blood
Phenotype Non-Syndromic Hearing Impairment (NSHI)
Ethnicity Hindu
Origin India
Haplogroup -
Comment THE MUTATION G-A IS FOUND AT POSITION 1462 IN MTRNR1 GENE IN THE SAMPLE Hyd-3 IS A SPORADIC CASE SHOWING NSHI ONLY IN THE PROBAND WHO IS A MALE.
Topic revision: r1 - 17 Nov 2015, UnknownUser

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