Home
Search
Graphic Search
Basic Text Search
Advanced Text Search
CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
CFTR Domains
Mouse CFTR Genomic Sequence
History
Background
Guidelines
Data
News Letters
Team
Statistics
Links
Submit
Help
Contact Information
Terminology
Frequently Asked Questions
Loading...
Mutation Details for c.1597T>G
Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.1597T>G
Protein Name
p.Phe533Val
Exon or Intron
Other Details
Contributors and Institutes
Angeliki Balassopoulou: Unit of Prenatal Diagnosis,Center for Thalassemias, Greece
-
Ersi Voskaridou Unit of Prenatal Diagnosis,Center for Thalassemias, Greece
Submitted Phenotype Details
Thiw change has been identified in woman of Greek origin undergoing CFTR mutations analysis due to positive ultrasound for echogenic bowel.
Reference
To check if there are any papers published about this mutation/variant on PubMed, please
click here.
Comments or questions? Please email to
cftr.admin
The Database was last updated at Apr 25, 2011