Unpublished Variant 20081106002

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://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20081106002


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 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.
This topic: MITOMAP/Submissions > VariantSubmission > AlleleExamples > VariantSubmission > 20081106002
Topic revision: 17 Nov 2015, UnknownUser
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