Sample Details for Hap5000117

ID

Hg ID: Hap5000117, GenBank ID: AM260562.1

Haplogroup

Phylotree BLD 16: V1a1, Phylotree BLD 17: , YFull: V1a1

Publication

Published in: Annunen-Rasila et al., 2006 | Annunen-Rasila, J., Finnilä, S., Mykkänen, K., Moilanen, J.S., Veijola, J., Pöyhönen, M., Viitanen, M., Kalimo, H. and Majamaa, K. (2006). Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. Neurogenetics, 7(3), 185-194.

Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is clinically characterised by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia. We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene and with a concomitant myopathy caused by a 5650G>A mutation in the MTTA gene in mitochondrial DNA (mtDNA). We assume that the co-occurrence of the two mutations is not coincidental and that mutations in the NOTCH3 gene may predispose the mtDNA to mutations.

Sample source link: http://www.ncbi.nlm.nih.gov/nuccore/AM260562.1

Origin: Finland

Publication Notes: CADASIL patient 5 CODING_REGION

Results Profile

RSRS Haplotype:

1-576d, 709, 769, 825T, 1018, 2758, 2885, 3594, 4104, 4312, 4580, 4639, 5263, 7146, 7256, 7521, 8468, 8655, 8701, 8869, 9540, 10398, 10664, 10688, 10810, 10873, 10915, 11719, 11914, 12705, 13105, 13276, 13506, 13650, 14766, 15904, 16024-16569d

rCRS Haplotype:

Coming soon…

FASTA Profile:


Phylotree Build 17 Analysis

Missing Variants: V1a1:72, 73, 146, 152, 195, 247, 16129, 16187, 16189, 16223, 16230, 16278, 16298, 16311

Additional Variants: V1a1:1-576d, 709, 16024-16569d


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

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