NC_012920.1:m.12299A>C

HGVS Expressions

  • NC_012920.1:m.12299A>C
Back to search Result
Genomic Location

chrMT:12299

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
540000.1.1Saudi ArabiaPathogenicMitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like EpisodesAbu-Amero et al. 2006 Patient is 65% and 80% heteroplasmic for...
540000.1.2Saudi ArabiaPathogenicAbu-Amero et al. 2006 Mother of patient 540000.1.1 who is 30% ...
© CAGS 2024. All rights reserved.