Phenotype: Huntington disease


OMIM: 143100
Inheritance: Autosomal dominant
Classification: Diseases of the nervous system

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HTT || 7-CCG repeat

Gene/Locus:    HTT
Dna Change:    7-CCG repeat
Protein Change:   
Mutation Type:    Sequence repeat
Mutation Effect:   
Location:   
Transcript:    NM_002111.7

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNAThe Land of Valencia, in Eastern SpainNAbetween 4,700 and 10,000 years agoGarcía-Planells J et al., 2005García-Planells J, Burguera JA, Solís P, Millán JM, Ginestar D, Palau F, Espinós C, . Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.. Hum. Mutat.. 2005; 25(5):453-9

References

García-Planells J, Burguera JA, Solís P, Millán JM, Ginestar D, Palau F, Espinós C, Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.Hum. Mutat.. 2005; 25(5):453-9