Mutation Details for c.165-50A>G
|
|
cDNA Name
|
c.165-50A>G
|
|
Exon or Intron
|
intron 2
|
|
Legacy Exon or Intron
|
intron 2
|
|
|
297-50A/G
|
|
Other Details
|
This mutation was detected by DGGE in a russian male.
|
|
Contributors
|
Chomel JC,
Baudis M,
Kitzis A
1998-12-03
|
|
Institute
|
CHU de Poitiers,
France
|
|
Submitted Phenotype Details
|
The mutation was found in a 39 years old CBAVD patient diagnosed at 35 years of age, with no pulmonary symptoms. No other clinical info is available.(pers. corr. Kitzis)
|
|
Reference
|
Chomel et al. 1998
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
