Mutation Details for c.3211C>T
|
|
cDNA Name
|
c.3211C>T
|
|
Protein Name
|
p.Gln1071X
|
|
Exon or Intron
|
exon 20
|
|
Legacy Exon or Intron
|
exon 17b
|
|
|
Q1071X
|
|
Other Details
|
|
|
Contributors
|
Girodon et al.
2003-05-30
|
|
Institute
|
Service de Biochimie-Genetique Hopital Henri-Mondor,France
|
|
Submitted Phenotype Details
|
The 31y male with CBAVD carries R117H on the other allele. (pers. corr. Girodon)
|
|
Reference
|
Girodon et al. 2003
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
