Mutation Details for c.2909-11_2909-5del
|
|
cDNA Name
|
c.2909-11_2909-5del
|
|
Exon or Intron
|
intron 17
|
|
Legacy Exon or Intron
|
intron 15
|
|
|
3041-11del7
|
|
Other Details
|
This mutation was detected in the homozygous state in a Turkish CBAVD patient.
|
|
Contributors
|
Dayangac D,
Erdem H,
Özgüc M,
Dörk T
2001-10-21
|
|
Institute
|
Dept. of Medical Biology Hacettepe University,
Sihhiye, Turkey
|
|
Submitted Phenotype Details
|
The homozygous patient was diagnosed with CBAVD. (pers. corr. Dayangac)
|
|
Reference
|
Dayangac et al. 2001
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
