Mutation Details for c.3094T>A
|
|
cDNA Name
|
c.3094T>A
|
|
Protein Name
|
p.Tyr1032Asn
|
|
Exon or Intron
|
exon 19
|
|
Legacy Exon or Intron
|
exon 17a
|
|
|
Y1032N
|
|
Other Details
|
This mutation was identified on one CF chromosome of Italian origin, G542X mutation was identified on the second allele
|
|
Contributors
|
Seia M, Porcaro G, Corbetta C, Padoan R
2004-06-16
|
|
Institute
|
Laboratorio Genetica Medica, ICP, Milano Centro Screening Neonatale e Centro Fibrosi Cistica, ICP, Milano
|
|
Submitted Phenotype Details
|
The individual (male, 3 year) was diagnosed as CF in the first month of life due to positive neonatal screening. Sweat test was 100 mmol/L chloride. His pancreatic status is sufficient, and at present he shows a normal growth and no pulmonary symptoms
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
