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m.4291T>C AND Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial

Significance: Pathogenic
ClinVar: RCV000010230

Variant: m.4291T>C

Type: Variant
Allele: m.4291T>C 24646
Gene:
Type: single nucleotide variant
Location: ChrMT: 4291 - assembly GRCh38
ChrMT: 4291 - assembly GRCh37
References: dbSNP: 121434471
OMIM: 590045.0007

Condition

Disease: Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial

Citation

    In a 4-generation pedigree segregating mitochondrial inheritance of hypertension, hypercholesterolemia, and hypomagnesemia (500005), Wilson et al. (2004) identified a C-to-T transition at mitochondrial nucleotide 4291 immediately 5-prime of the tRNA isoleucine anticodon. All individuals in the maternal lineage were homoplasmic for this mutation. Hypomagnesemia, hypertension, and hypercholesterolemia each showed 50% penetrance among adults on the maternal lineage.
PMID:15498972