Mutation Details for c.1703delT
|
|
cDNA Name
|
c.1703delT
|
|
Protein Name
|
p.Leu568CysfsX4
|
|
Exon or Intron
|
exon 13
|
|
Legacy Exon or Intron
|
exon 12
|
|
|
1833delT
|
|
Other Details
|
This mutation has been found on one out of 68 non-[delta] Danish CF chromosomes, associated with haplotype C and IVS8CA=7. It was found by SSCP analysis. By screening for mutations by SSCP we found 11 chromosomes (out of 68) wiht the previous published mutation 394delTT. This mutation might be worth looking for. The mutation was associated with haplotype B (IVS8CA) 2 in 6 cases.
|
|
Contributors
|
Schwartz M,
Palle AL,
Christensen GV,
1992-08-20
|
|
Institute
|
Section of Clinical Genetics
Rigshopitalet
Copenhagen, Denmark
|
|
Submitted Phenotype Details
|
|
|
Reference
|
Schwartz et al. (NL#49)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
