Mutation Details for c.653T>A
|
|
cDNA Name
|
c.653T>A
|
|
Protein Name
|
p.Leu218X
|
|
Exon or Intron
|
exon 6
|
|
Legacy Exon or Intron
|
exon 6a
|
|
|
L218X
|
|
Other Details
|
The mutation was detected by heteroduplex analysis. It was found in a Pakistani CF patient. The second mutation: unknown.
|
|
Contributors
|
Zielenski J,
Markiewicz D,
Tsui L-C
1996-10-07
|
|
Institute
|
The Hospital for Sick Children,
Toronto, Canada
|
|
Submitted Phenotype Details
|
The homozygous CF patient is PI, with sweat chloride >100 mmol/l. (pers. corr. Zielenski)
|
|
Reference
|
Zielenski et al. (NL#69)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
