Sample Details for Hap5017609

ID

Hg ID: Hap5017609, GenBank ID: HM765470.1

Haplogroup

Phylotree BLD 16: J1c11a, Phylotree BLD 17: , YFull: J1c11a*

Publication

Published in: Zaragoza et al., 2010a | Zaragoza, M.V., Fass, J., Diegoli, M., Lin, D. and Arbustini, E. (2010). Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing. PLoS ONE, 5(8), e12295.

Mutations in mitochondrial DNA (mtDNA) may cause maternally-inherited cardiomyopathy and heart failure. In homoplasmy all mtDNA copies contain the mutation. In heteroplasmy there is a mixture of normal and mutant copies of mtDNA. The clinical phenotype of an affected individual depends on the type of genetic defect and the ratios of mutant and normal mtDNA in affected tissues. We aimed at determining the sensitivity of next-generation sequencing compared to Sanger sequencing for mutation detection in patients with mitochondrial cardiomyopathy.

Sample source link: http://www.ncbi.nlm.nih.gov/nuccore/HM765470.1

Origin:

Publication Notes: Case17

Results Profile

RSRS Haplotype:

146, 152, 185, 195, 228, 247, 295, 315.1C, 462, 489, 769, 825T, 1018, 2758, 2885, 3010, 3594, 4104, 4216, 4312, 7146, 7256, 7521, 8468, 8655, 8701, 9497, 9540, 10664, 10688, 10810, 10873, 10899, 10915, 11251, 11914, 12612, 12705, 13105, 13276, 13506, 13650, 13708, 14798, 15262, 15452A, 16069, 16126, 16129, 16187, 16189, 16223, 16224, 16230, 16278, 16311, 16519

rCRS Haplotype:

Coming soon…

FASTA Profile:


Phylotree Build 17 Analysis

Missing Variants: none

Additional Variants: J1c11a:315.1C, 9497, 10899, 16519


Last Updated: 2016/06/29 10:51:00 PM

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