Mutation Details for c.3139+183T>G
|
|
cDNA Name
|
c.3139+183T>G
|
|
Exon or Intron
|
intron 19
|
|
Legacy Exon or Intron
|
intron 17a
|
|
|
3271+183 T to G
|
|
Other Details
|
This substitution was identified in a child suspect of CF but no other substitution could be identified. The diagnosis has not been confirmed and the impact of this substitution on splicing is not evident. 3271+183 T to G could be a polymorphism.
|
|
Contributors
|
Chevalier-Porst F,
Bozon D
2000-04-25
|
|
Institute
|
Biochimie Pediatrique
Hopital Debrousse,
Lyon France
|
|
Submitted Phenotype Details
|
3271+183 T to G was found in an individual born 1998. 3271+183T/G : was not identified in a CF patient : this is also a polymorphism. (pers. corr. Bozon)
|
|
Reference
|
Chevalier-Porst & Bozon 2000
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
