Mutation Details for c.2998_3012del
|
|
cDNA Name
|
c.2998_3012del
|
|
Protein Name
|
p.Val1001_Ile1005del
|
|
Exon or Intron
|
exon 19
|
|
Legacy Exon or Intron
|
exon 17a
|
|
|
3131del15
|
|
Other Details
|
This mutation, in exon4 of the CFTR gene, was identified by direct DNA sequencing with an automatic ABI 373A sequencer and is a single base substitution from C to T at position 455 of the CFTR gene. We have detected this mutation by SSCP analysis once in 25 non-[delta]F508 chromosomes. The patient is a 19 year old German young man. He carries a [delta]F 508 mutation at his other CF-chromosome.
|
|
Contributors
|
Witt I,Muller H
1994-02-18
|
|
Institute
|
St. Mary's Hospital Manchester, UK
|
|
Submitted Phenotype Details
|
|
|
Reference
|
Wallace & Tassabehji (NL#61)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
