Mutation Details for c.3895delA

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.3895delA 
Protein Name p.Thr1299HisfsX29 
Exon or Intron  
Other Details  
Contributors and Institutes
Ibarra-González I, Campos-Garcia FJ, Herrera-Pérez LDA, Martínez-Cruz P, - Moreno-Graciano CM, Contreras-Capetillo SN, León-Burgos V, Maldonado-Solis FA,
Alcántara-Ortigoza MA, González Del Angel A, Vela-Amieva M. - Sociedad Mexicana de Errores Innatos y Tamiz, A.C., México.
Instituto de Investigaciones Biomédicas, UNAM, CDMX, México. - TamizMas® de Químicos Maldonado, Villahermosa, México.
Hospital General "Dr. Agustín O'Horán," Mérida, México. - DNA-GEN, S.C. Centro de Alta Especialidad en Genética Humana, Ciudad de México, México.
Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, CDMX, México. - Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, CDMX, México.
  
Submitted Phenotype Details Mexican CF newborn patient identified through a newborn screening program (two elevated IRT blood concentrations). Sweat chloride value: 97 mmol/L. Compuond heterozygous patient: c.[3808del];[3895del] or p.[Asp1270Metfs*8];[Thr1299Hisfs*29]. Parental genotypes were not availabñle to confirm phase of these two CFTR alleles. Clinical follow-up unavailable. 
Reference Ibarra-González I et al., J Med Screen. 2017. doi:10.1177/0969141317722808. 

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The Database was last updated at Apr 25, 2011