Mutation Details for c.24G>A
|
cDNA Name
|
c.24G>A
|
Exon or Intron
|
exon 1
|
Legacy Exon or Intron
|
exon 1
|
|
156G/A
|
Other Details
|
This polymorphism, which destroys a HaeIII restriction site, was detected by DGGE and direct sequencing of the normal chromosome of the mother of a CF patient from Lebanon.
|
Contributors
|
Claustres M,
Romey MC,
Desgeorges M
1995-12-13
|
Institute
|
Institut de Biologie Montpellier, France
|
Submitted Phenotype Details
|
156G/A is a polymorphism : found in trans of S4X in parent of CF. (pers.corr. Claustres)
|
Reference
|
Claustres et al (NL#67)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|