Mutation Details for c.164+12T>C
|
|
cDNA Name
|
c.164+12T>C
|
|
Exon or Intron
|
intron 2
|
|
Legacy Exon or Intron
|
intron 2
|
|
|
296+12T->C
|
|
Other Details
|
We don't know if this mutation disrupts the splice site in intron 2. It does not create a splice reocgnition site. The mutation was found in a consanguineous Pakistani family. AS the CF patient already died, only a small amount of DNA was available for investigation. For this reason we first analyzed the complete coding region and the exon/intron junctions of the CFTR genes of the mother of this CF patient by means of direct automatic sequencing. The 296+12T->C mutation was the only mutation that we found besides some known polymorphisms. Subsequently, we identified this mutation in the father who was heterozygous and in the CF patient who was homozygous for this mutation.
|
|
Contributors
|
Cuppens H,
Marynen P,
Cassiman JJ
Schwarz M,
Malone G,
Super M
1993-02-18
|
|
Institute
|
University of Leuven
Leuven, Belgium
Royal Manchester Children's Hospital
Manchester, England
|
|
Submitted Phenotype Details
|
This homozygous CF patient has died. (pers. corr. De Boeck)
|
|
Reference
|
Cuppens et al. (NL#53)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
