Mutation Details for c.3963+1G>T
|
cDNA Name
|
c.3963+1G>T
|
Exon or Intron
|
intron 24
|
Legacy Exon or Intron
|
intron 21
|
|
4095+1G->T
|
Other Details
|
This nucleotide change was identified in Polish infant during CF newborn screening program. No other mutation was found after sequencing of exons: 7, 10, 11, 13, 21. Mutations: 3849+10kbC>T, dele2,3(21kb), and R117H were also excluded .
|
Contributors
|
Norek A., Sobczynska-Tomaszewska A., Wertheim K., Czerska K, OĊtarzewski M., Sands D., Bal J.
2008-05-01
|
Institute
|
Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
|
Submitted Phenotype Details
|
1.IRT = 202.14 [ug/l]
2.IRT = 84.11 [ug/l]
No CF symptoms
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|