Mutation Details for c.2909-1G>A
|
|
cDNA Name
|
c.2909-1G>A
|
|
Exon or Intron
|
intron 17
|
|
Legacy Exon or Intron
|
intron 15
|
|
|
3041-1G->A
|
|
Other Details
|
The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was found in a 4-year old female CF patient whose other mutation is [delta]F508. 3041-1G->A was seen only once in 80 non-[delta]F508 chromosome screened.
|
|
Contributors
|
Malone G,
Hawworth A,
Schwarz M
1995-08-03
|
|
Institute
|
Royal Manchester Children's Hospital,
England
|
|
Submitted Phenotype Details
|
The patient (female, born in March 1991) was diagnosed with CF. She had meconium ileus. She carries DelF508 on the other allele.
(pers. corr. Malone)
|
|
Reference
|
Malone et al (NL#67)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
