Mutation Details for c.165-2A>G
|
|
cDNA Name
|
c.165-2A>G
|
|
Exon or Intron
|
intron 2
|
|
Legacy Exon or Intron
|
intron 2
|
|
|
297-2A->G
|
|
Other Details
|
The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. 297-2A->G was found in a male CF patient (referred by Dr. J. Harvey of Salisbury, England) whose other mutation is [delta]F508. 297-2A->G was seen only once in over 100 non-[delta]F508 CF chromosomes screened.
|
|
Contributors
|
Schwarz M,
Hawworth A,
Malone G
1995-09-04
|
|
Institute
|
Royal Manchester Children's Hospital,
England
|
|
Submitted Phenotype Details
|
The CF patient carries delF508 on the other allele.
(pers.corr. Schwarz)
|
|
Reference
|
Schwarz et al (NL#67)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
