Mutation Details for c.410T>C
|
|
cDNA Name
|
c.410T>C
|
|
Protein Name
|
p.Leu137Pro
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
L137P
|
|
Other Details
|
The sequence alteration above was found once in 500 chromosomes screened.
|
|
Contributors
|
Tzetis M,
Antoniadi Th,
Kanavakis E
1996-02-21
|
|
Institute
|
First Department of Pediatrics,
Athens University,
Greece
|
|
Submitted Phenotype Details
|
The 5 years old female patient was diagnosed at 5 months of age, with dehydration, is PS, has sweat chloride 90 mmol/l. She carries G542X on the other allele. (pers. corr. Tzetis)
|
|
Reference
|
Tzetis et al. (NL#68)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
