Mutation Details for c.870-2A>G
|
|
cDNA Name
|
c.870-2A>G
|
|
Exon or Intron
|
intron 7
|
|
Legacy Exon or Intron
|
intron 6b
|
|
|
1002-2A>G
|
|
Other Details
|
This novel mutation has been identified by SSCA/HD after complete CFTR gene analysis and direct sequencing on one CF allele
|
|
Contributors
|
L. Ramos, J. Giménez, J. Manzanares*, T. Casals
2008-06-09
|
|
Institute
|
CGMM-IDIBELL. Barcelona. Spain
*Cystic Fibrosis Unit, Hospital 12 de Octubre. Madrid. Spain
|
|
Submitted Phenotype Details
|
Female (20y) with lung disease, Pseudomonas, pancreatic insufficiency and positive sweat test. The patient presents the genotype [G1244E] + [1002-2A>G]. She comes from El Salvador (Latin America) (pers.corr. T. Casals).
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
