Mutation Details for c.1673T>C
|
|
cDNA Name
|
c.1673T>C
|
|
Protein Name
|
p.Leu558Ser
|
|
Exon or Intron
|
exon 12
|
|
Legacy Exon or Intron
|
exon 11
|
|
|
L558S
|
|
Other Details
|
This missense mutation was discovered in one of the CF genes from a Sicilian patient. A T->C substitution at nt 1805 in exon 11 (L558S) was found on one of 65 non-[delta]F508 CF chromosomes in the Sicilian population. The other allele is uncharacterized and the haplotypes associated with the CF alleles in this patient are AC (XV2C/KM19). The mutation can be detected by digestion of exon 11 with XmnI.
|
|
Contributors
|
Maggio A,
Goossens M,
Fanen P
1991-01-18
|
|
Institute
|
Unite de Recherche en Genetique Moleculaire et en Hematologie
Creteil, France
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Maggio et al. (NL#31)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
