Mutation Details for c.1450C>T
|
|
cDNA Name
|
c.1450C>T
|
|
Protein Name
|
p.His484Tyr
|
|
Exon or Intron
|
exon 11
|
|
Legacy Exon or Intron
|
exon 10
|
|
|
H484Y
|
|
Other Details
|
The H484Y mutation was detected by SSCA and direct sequencing. The patient is a Spanish man with CBAVD.
|
|
Contributors
|
Casals T,
Gimenez J,
Ramos M D,
Nunes V,
Estivill X
1997-01-31
|
|
Institute
|
IRO, Barcelona, Spain
|
|
Submitted Phenotype Details
|
Patient (M), has PS and CBAVD.
No other mutation has been found.
(Pers. corr. Casals)
|
|
Reference
|
Casals et al. (NL#69)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
