Mutation Details for c.433delC
|
|
cDNA Name
|
c.433delC
|
|
Protein Name
|
p.Leu145PhefsX8
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
565delC
|
|
Other Details
|
Patient was from Brazil and of Afro-American origin. The 565delC mutation was detected by SSCA and direct sequencing. The patient also carries mutation P5 (?) and he is PI with mild lung disease.
|
|
Contributors
|
Casals T,
Ramos MD,
Gimenez J,
Nunes V,
Estivill X.
Faucz F,
Raskin S.
1996-07-19
|
|
Institute
|
IRO,
Spain.
Lab. Genetika,
Brazil
|
|
Submitted Phenotype Details
|
The mutation was identified in a male patient, PS, with mild pulmonary symptoms and P5L on the other allele. (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.
|
|
|
|
|
