Mutation Details for c.2855T>C
|
|
cDNA Name
|
c.2855T>C
|
|
Protein Name
|
p.Met952Thr
|
|
Exon or Intron
|
exon 17
|
|
Legacy Exon or Intron
|
exon 15
|
|
|
M952T
|
|
Other Details
|
The mutation was detected in one Polish CF patient by multiplex heteroduplex analysis on MDE gel matrix and direct sequencing. The mutation on the other chromosome is unknown.
|
|
Contributors
|
Zielenski J,
Aznarez I,
Tsui L-C,
Bal J,
Mazurczak T
1999-07-26
|
|
Institute
|
The Hosiptal for Sick Children
Toronto, Canada
Institute for Mother and Child
Warsaw, Poland
|
|
Submitted Phenotype Details
|
The mutation was found in a CBAVD patient. (pers. corr. Zielenski)
|
|
Reference
|
Zielenski et al. 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
