Mutation Details for c.3964-28G>A
|
|
cDNA Name
|
c.3964-28G>A
|
|
Exon or Intron
|
intron 24
|
|
Legacy Exon or Intron
|
intron 21
|
|
|
4096-28G->A
|
|
Other Details
|
The sequence alteration above was found by DGGE and identified by direct sequencing in Libanese families. It creates a new EcoRV site.
|
|
Contributors
|
Claustres M,
Guittard C,
Desgorges M,
Carles S
1996-04-30
|
|
Institute
|
Institut de Biologie Montpellier
|
|
Submitted Phenotype Details
|
4096-28G->A was found in a 4m, F Lebanese CF patient diagnosed at 2m for hypotrophia, with severe lung disease and sweat chloride 52 mmol/l. (pers. corr. Claustres)
|
|
Reference
|
Claustres et al. (NL#68)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
