Mutation Details for c.3954T>C
|
|
cDNA Name
|
c.3954T>C
|
|
Exon or Intron
|
exon 24
|
|
Legacy Exon or Intron
|
exon 21
|
|
|
4086T/C
|
|
Other Details
|
no change (Val at 1318)
|
|
Contributors
|
Claustres M,
Laussel,
Desgeorges M,
Razakatzara G
1993-08-02
|
|
Institute
|
Laboratoire de Biochimie Genetique
Montpellier, France
|
|
Submitted Phenotype Details
|
4086T/C is considered to be a polymorphism. (pers. corr. Claustres)
|
|
Reference
|
Claustres et al. (NL#58)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
