Mutation Details for c.1585-1G>A
|
|
cDNA Name
|
c.1585-1G>A
|
|
Exon or Intron
|
intron 11
|
|
Legacy Exon or Intron
|
intron 10
|
|
|
1717-1G->A
|
|
Other Details
|
This mutation was first reported by Kerem and Tsui in NL#11. Detailed description may be found in: Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy K, Riordan JR, Collins FS, Rommens JM, Tsui L-C (1990). Identification of mutations in regions corresponding to the 2 putative nucleotide(ATP)-binding folds of the cystic fibrosis gene. Proc. Natl. Acad. Sci. USA 87: 8447-8451.
It was also described by Guillermit H, Fanem P, Ferec C. 1993. 3' splice site consensus sequence mutaiton in the cystic fibrosis gene. Hum Genet 85: 450-453.
Supplementary comments from Dork et al. (NL#20): The male German adult who carries this mutation on his paternal and the deletion F508 on the maternal chromosome, shows normal height, weight and lung function, but requires high doses of pancreatic enzyme supplementation.
|
|
Contributors
|
Kerem B
Tsui L-C
1990-03-30
|
|
Institute
|
Hospital for Sick Children, Toronto, Canada
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Kerem et al. 1990
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
