Mutation Details for c.2988+1G>A

cDNA Name c.2988+1G>A 
Exon or Intron intron 18 
Legacy Exon or Intron intron 16 
Legacy Name 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) 

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The Database was last updated at Apr 25, 2011