Presentation about G551D Variant What variant class does G551D specific variant belong to? you should research to determine which class your variant belongs to

Presentation about G551D Variant

What variant class does G551D specific variant belong to?

you should research to determine which class your variant belongs to. You should describe the specific problem with your variant on your poster and in your presentation.

Now, go to the website at https://cftr2.org/

The goal is to research three possible combinations:

1. Your variant alone

2. Your variant in both positions (located on both chromosomes).

3. Your variant in combination with variant F508del.Each of these will need to be run separately in the database and different information may be examined for each combination. You should report on each of these situations in your poster.

Suggested Power point slide content:

Slide: CF Variant Information: General background about CF mutations followed by the information you have researched about your specific variant and the implications of the different allele combinations that you researched. What class does your variant fall into? What is the problem that puts this variant into this class? What are the most common clinical manifestations for this variant? What is the percentage of the population with CF carry this variant and this variant in combination with variant F508del? Is it possible to screen people for the presence of this variant?

The following web sites contain information about testing that can be done for CFTR variants

.https://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis#amhttps://ltd.aruplab.com/Tests/Pdf/182https://www.labcorp.com/test-menu/23686/cystic-fibrosis-cf-profile-32-mutations-fetal-analysis

Notes: the variant mutation is G551D cause CF

1. You can use other web sites.

2. Make citation to the work

3. Two images to the slide should include one explain the function of the cell will effect by this variant (G551d) other image about descriptions of class III.

4. I have the flexibility to add or delete any information in that report.