Mutation Detection Techniques 🧬 Find the Genetic Mutation Types⚕️

Nonsense Mutation Foundation
Nonsense Mutation Foundation
856 بار بازدید - 3 ساعت پیش - Did you ever wonder what
Did you ever wonder what your exact mutation type is? How to find what mutation type you carry? ▶️ Find your mutation Type: www.nonsensemutations.com/findyourmutationtype ▶️The site used in this video is called GeneCards - it takes its data from the NIH ClinVar database: www.genecards.org/ ▶️ You can share your genetic report with science via the ClinGen imitative by the NIH: www.clinicalgenome.org/genomeconnect/for-patients-… ▶️ If your mutation type is nonsense, please join us: www.nonsensemutations.com/ Hello Guys! Welcome and in this video, we will discuss types of maturation and How to find what mutation type you carry. Maybe you are not even aware that there are mutation types. We believe this is important as there are unique therapeutic approaches to different mutation types as this is the case of nonsense. A gene variation is a change in the DNA sequence that makes up a gene that is irreversible. This form of genetic change was previously referred to as a gene mutation, but because changes in DNA do not necessarily result in disease, gene variant is regarded to be a more accurate word. One or more DNA building units (nucleotides) in a gene can be affected by variants. The majority of variations do not cause disease, and those that do are rare in the general population. Some genetic variations are prevalent enough in the population to be classified as such. Differential traits such as eye color, hair color, and blood type are caused by a variety of such variants. Although many of these common DNA changes have no detrimental consequences for a person's health, some of them may influence the chance of getting specific diseases. ▶️ The common mutation types are: • Nonsense • Missense • Splice site • Frameshift • In frame deletion \ addition ▶️ What will you need to know maturation type? In order to find out what your exact mutation type is, you will need to have your genetic report at hand. It must contain the genetic mutation (variant) specification. ▶️ First Method - Inspect your report Many times the genetic report will state the mutation type in plain English. You should scan it to find your exact variant. In many reports the exact mutation is not specified. ▶️ Second Method - Search it online • Log on to a site called Genecards • In the search box type the gene name and hit enter • Select the gene from the results list • At the upper part of the screen you have the ability to "jump into section", select Variants • This section contains the list of mutations in the gene, but the list is compacted, click the See All to open the full list. • Sort the list by click on the third column ( the name of this column changes based on the chromosome where the gene is located) • Locate your variant in the list (since it is sorted this should be so hard • The last column specifies the mutation type So, watch till the end and you can share your thoughts in the comments. If you like the video, Please SUBSCRIBE and don’t forget to press the bell, 🔔 like, comment and share the video. Stay safe and Love all. 😍😘 ------------- ▶️ Please subscribe:    / @nonsensemutationfoundation852   ------------- ▶️ Visit us: www.nonsensemutations.org/ ------------- ▶️ Follow us on Facebook: www.facebook.com/groups/81079... ------------- ▶️ For business enquiries: [email protected] ------------- ▶️ Other video: • How Does Whole Exome Sequencing Work:    • How Does Whole Exome Sequencing Work ...   • Introduction to Genetic Disorders:    • Introduction to Genetic Disorders ✨   ------------- #typesofmutation #NonsenseMutationFoundation #mutationdetectiontechniques #frameshiftmutation #splicesitemutation #nonsensemutation #missensemutation #inframemutation #geneticmutation #geneticdisorders #dnasequencing
3 ساعت پیش در تاریخ 1403/07/17 منتشر شده است.
856 بـار بازدید شده
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