Mutation Details for c.842T>C
|
|
cDNA Name
|
c.842T>C
|
|
Protein Name
|
p.Met281Thr
|
|
Exon or Intron
|
exon 7
|
|
Legacy Exon or Intron
|
exon 6b
|
|
|
M281T
|
|
Other Details
|
This change has been detected by SSCP/HD analysis and direct sequencing.
|
|
Contributors
|
T. Casals, J. Gimenez, MD. Ramos, L. Aparisi
2002-01-01
|
|
Institute
|
CGMM-IRO Barcelona, Spain Hospital Clinic Valencia, Spain
|
|
Submitted Phenotype Details
|
The patient (male, 38y) presented chronic pancreatitis, PS and sweat test 62mMol/L. No other mutation was identified.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
