Mutation Details for c.2210C>T
|
|
cDNA Name
|
c.2210C>T
|
|
Protein Name
|
p.Ser737Phe
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
S737F
|
|
Other Details
|
This nucleotide change was identified in two Italian patients.
|
|
Contributors
|
Centrone C, Pelo E, Repetto T, Torricelli F
2004-06-16
|
|
Institute
|
U.O. Citogenetica e Genetica A.O. Careggi
|
|
Submitted Phenotype Details
|
The first patient is 2 years old (male), is pancreatic sufficiency and he has not Pseudomonas infections. The unique clinical manifestation is loss aof salt. Cl= 71. The second one is compound heterozygote W1282X and S737F, 2 years old (male). He is pancreatic sufficiency and has not Pseudomonas infection. Cl=51
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
