Mutation Details for c.950T>C
|
|
cDNA Name
|
c.950T>C
|
|
Protein Name
|
p.Val317Ala
|
|
Exon or Intron
|
exon 8
|
|
Legacy Exon or Intron
|
exon 7
|
|
|
V317A
|
|
Other Details
|
This movel polymorphism was identified in exon 7. The nucleotide change is T->C at nucleotide position 1082 leading to V317A.
|
|
Contributors
|
Ferec C,
Quere I,
Verlingue C,
Audrezet MP<
Raguenes O,
Guillermit H,
Mercier B
1993-05-18
|
|
Institute
|
Centre de Transfusion Sanguine et de Biogenetique
Brest, France
|
|
Submitted Phenotype Details
|
The mutation was identified through neonatal screening for hypertrypsinemia. (Scotet et al. 2001, pers. corr. Ferec)
|
|
Reference
|
Férec et al. (NL#55)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
