Mutation Details for c.331C>G
|
|
cDNA Name
|
c.331C>G
|
|
Protein Name
|
p.Pro111Ala
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
P111A
|
|
Other Details
|
The mutation was identified by DGGE and direct DNA sequencing in a CBAVD patient. He has a stop mutation R553X on the other allele.
|
|
Contributors
|
Férec C,
Verlingue C,
Quere I,
Mercier B
1996-11-28
|
|
Institute
|
Laboratoire de Biogénétique,
University of Brest
Brest, France
|
|
Submitted Phenotype Details
|
The CBAVD patient carries R553X on the other allele.
(pers. corr. Ferec)
|
|
Reference
|
Férec et al. (NL#69)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
