OMIM: 234810Inheritance: Autosomal recessive
Classification: Not classified
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | EIF2AK4 |
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| Dna Change: | c.3344C>T |
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| Protein Change: | p.Pro1115Leu |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 23 |
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| Transcript: | NM_001013703.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | Iberian Gypsies | NA | 5 families | NA | Tenorio J et al., 2014Tenorio J, Navas P, Barrios E, Fernández L, Nevado J, Quezada CA, López-Meseguer M, Arias P, Mena R, Lobo JL, Alvarez C, Heath K, Escribano-Subías P, Lapunzina P, . A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.. Clin. Genet.. 2014; 0(0): |
References
Tenorio J, Navas P, Barrios E, Fernández L, Nevado J, Quezada CA, López-Meseguer M, Arias P, Mena R, Lobo JL, Alvarez C, Heath K, Escribano-Subías P, Lapunzina P, A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.Clin. Genet.. 2014; 0(0):