Mutation Details for c.2988+1G>A
|
|
cDNA Name
|
c.2988+1G>A
|
|
Exon or Intron
|
intron 18
|
|
Legacy Exon or Intron
|
intron 16
|
|
|
3120+1G->A
|
|
Other Details
|
The mutation, 3120+1G->A was not seen in 188 normal African-American and 13 non-CF African-American chromosomes. This mutation was not seen in 160 Caucasian CF chromosomes screened by DGGE (NL#56).
This mutation accounts for 12.7% of African-American CF alleles and is the most common after [delta]F508. Its presence on a native African CF chromosome and absence on Caucasian CF chromosomes suggests that this is of African origin (Ref: Macek et al., AJHG 60: 112-1127, 1997)
This mutation has also been found in South African, Saudi Arab and Greek patients. Please see Dork et al. AJHG 63: 656-662. 1998.
|
|
Contributors
|
Macek MJr,
Davis CL,
Hamosh A,
Cutting GR,
Kiesewetter SS
1993-10-27
|
|
Institute
|
Johns Hopkins Medical Institutions
Baltimore, MD, USA
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Macek et al. (1997)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
