Mutation Details for c.4045G>A
|
|
cDNA Name
|
c.4045G>A
|
|
Protein Name
|
p.Gly1349Ser
|
|
Exon or Intron
|
exon 25
|
|
Legacy Exon or Intron
|
exon 22
|
|
|
G1349S
|
|
Other Details
|
The mutation was found using SSCP analysis and direct sequencing.
It was detected in one of the CFTR alleles of a Japanese CBAVD patient. The patient has another mutation Q1352H in the other allele.
|
|
Contributors
|
Yoshimura K
1999-03-15
|
|
Institute
|
Department of Gene Therapy
Institute of DNA Medicine,
Jikei University School of Medicine,
Tokyo, Japan
|
|
Submitted Phenotype Details
|
Patient (M) is 41, has PS, no lung disease and CBAVD.
Q1349S was found on the other allele.
(Pers. corr. Yoshimura)
|
|
Reference
|
Yoshimura 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
