Mutation Details for c.4111_4113dupGAA
|
|
cDNA Name
|
c.4111_4113dupGAA
|
|
Protein Name
|
p.Glu1371dup
|
|
Exon or Intron
|
exon 25
|
|
Other Details
|
The patient is compound heterozygote, the second mutation is C to T at 3328 in exon 17b (p.R1066C); the mutation was detected after sequencing of the whole CFTR gene and was detected only once in our cohort of CF-patients
|
|
Contributors and Institutes
|
| Wagner Klaus | - | Medical University Graz, Institute of Human Genetics |
|
|
Submitted Phenotype Details
|
The female patient was born 1999, parents are from kazakhstan and were not available for analysis. Sweat test was positive.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
