Mutation Details for c.1373G>T
|
|
cDNA Name
|
c.1373G>T
|
|
Protein Name
|
p.Gly458Val
|
|
Exon or Intron
|
exon 10
|
|
Legacy Exon or Intron
|
exon 9
|
|
|
G458V
|
|
Other Details
|
This mutation has been found in one CF chromosome of Belgian origin and is associated with haplotype XV2c/CS7/KM19/D9 : 2111. The mutation has been detected by direct sequencing of amplified DNA of this patient and has been confirmed by dot-blot analysis. This mutation has been detected in one out of 51 CF chromosomes (15 of them having the F508 deletion, one has a G542X mutation and 35 having an unknown mutation).
|
|
Contributors
|
Cuppens H,
Marynen P,
Cassiman JJ
1990-03-20
|
|
Institute
|
University of Leuven
Leuven, Belgium
|
|
Submitted Phenotype Details
|
One patient, male.G542X on the other allele
(pers. corr. De Boeck)
|
|
Reference
|
Cuppens et al. 1990
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
