Mutation Details for c.296C>T
|
|
cDNA Name
|
c.296C>T
|
|
Protein Name
|
p.Pro99Leu
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
P99L
|
|
Other Details
|
This mutation was found together with [delta]F508 in a patient with extreme mild symptoms. It was found by SSCP and sequencing.
|
|
Contributors
|
Schwartz M,
Holmberg L
1992-08-20
|
|
Institute
|
Section of Clinical Genetics
Rigshopitalet
Copenhagen, Denmark
|
|
Submitted Phenotype Details
|
|
|
Reference
|
Schwartz & Holmberg(NL#50)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
