Mutation Details for c.2276_2277delCC
|
|
cDNA Name
|
c.2276_2277delCC
|
|
Protein Name
|
p.Pro759HisfsX19
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
2406delCC
|
|
Other Details
|
This mutation was identified, by D-HPLC and direct DNA sequencing in a CF patient from Sardinia.
|
|
Contributors
|
Bonizzato A.
2006-12-11
|
|
Institute
|
Laboratorio Analisi Chimico-cliniche ed Ematologiche, Ospedale Civile Maggiore - Verona, Italy.
|
|
Submitted Phenotype Details
|
The patient (female, 31 y) was diagnosed when 11 years old and presents a CF phenotype with PS. The other CF chromosome carries the 2789+5G>A mutation.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
