So what does 1525-1G>A mutation in the same Cystic fibrosis mean?
how can in refer to a splice mutation?
hi, the nomenclature 1525-1G>A points to a genetic variation at position -1 respective to position 1525 with a changing of G to A. The idea being that you are counting from the start of the cDNA with A in ATG being number 1 (one). To give this any useful meaning position 1525 should be the first position in an exon and the G should be the G of the invariant 3´- AG of the preceding intron. The correct nomenclature would be c.1525-1G>A with c. indicating cDNA - according to HGVS. But non-the-less, if looking to the CFTR sequence using transcript variant NM_000492.3 position 1525 would be in the middle of exon 10 i.e. something is wrong!
Please see, http://www.hgvs.org/mutnomen/ for an explanation of mutation nomenclature.
Odense University Hospital
deCODE genetics, Inc.
Bahrouz M. A. Al- Jaff
University of Sulaimani
University of Plymouth
International Islamic University Malaysia
Helen K. Chadwick
University of Leeds
King George's Medical University