Mutation Details for c.1766+30G>A
|
cDNA Name
|
c.1766+30G>A
|
Exon or Intron
|
intron 13
|
Legacy Exon or Intron
|
intron 12
|
|
1898+30G/A
|
Other Details
|
The 1898+30G/A polymorphism was found in a Portuguese patient with a non-confirmed CF diagnosis. The above polymorphism was discovered by DGGE and identified by direct sequencing. This nucleotide change has been found once in 353 non-deltaF508 CF chromosomes tested from the Portuguese population. This nucleotide change was found neither in 291 normal chromosomes nor in 177 with an identified CF mutation. The patient was a new-born with respiratory insufficiency and infection, and growth retardation. No CF mutation was found and the CF diagnosis was not confirmed.
|
Contributors
|
Pacheco P,
Loureiro P,
Lavinha J
1999-06-02
|
Institute
|
Instituto Nacional de Saúde
Lisboa, Portugal
|
Submitted Phenotype Details
|
|
Reference
|
Pacheco et al. 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|