Mutation Details for c.1210-1G>C
|
|
cDNA Name
|
c.1210-1G>C
|
|
Exon or Intron
|
intron 9
|
|
Legacy Exon or Intron
|
intron 8
|
|
|
1342-1G->C
|
|
Other Details
|
This type of mutation is predicted to cause aberrant splicing leading to the loss of exon 9. Since CF transcripts missing exon 9 have been detected in normal epithelial cells, we are not positive that this mutation causes a disease. The patient carrying this mutation has a moderately severe disease and on the other chromosome carries the [delta]F508 mutation. We presume he inherited the splice site mutation from his father since the mother does not carry this mutation. This mutation was nto found on any other CF chromosomes from 16 Caucasian or 17 American Black CF patients.
|
|
Contributors
|
Cutting GR
Curristin S
1991-01-04
|
|
Institute
|
Johns Hopkins Hospital
Baltimore, MD, USA
|
|
Submitted Phenotype Details
|
|
|
Reference
|
Cutting & Curristin (NL #30)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
