Genetics questions - Revision history

Mikael Häggström: Explained

2021-09-20T23:46:22Z

Explained

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	\| content = Correct answer:<br>3. brca Ala1708Val<br>ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708. The other entries show a list of results, where it may take substantial time to find the variant at hand.		\| content = Correct answer:<br>3. brca Ala1708Val<br>ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708) of the protein (p.). The other entries (including cDNA change of cytosine to thymine at position 5123) show a list of results, where it may take substantial time to find the variant at hand.
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Mikael Häggström: br

2021-09-20T23:44:32Z

← Older revision		Revision as of 19:44, 20 September 2021
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	\| content = Correct answer: 3. brca Ala1708Val<br>ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708. The other entries show a list of results, where it may take substantial time to find the variant at hand.		\| content = Correct answer:<br>3. brca Ala1708Val<br>ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708. The other entries show a list of results, where it may take substantial time to find the variant at hand.
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Mikael Häggström: Bottom

2021-09-20T23:40:05Z

Bottom

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	\| content = Correct answer: 3. brca Ala1708Val<br>ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708. The other entries show a list of results, where it may take substantial time to find the variant at hand.		\| content = Correct answer: 3. brca Ala1708Val<br>ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708. The other entries show a list of results, where it may take substantial time to find the variant at hand.
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Mikael Häggström: +Q

2021-09-20T23:39:50Z

New page

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|author1=[[User:Mikael Häggström|Mikael Häggström]]
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===ClinVar===
For a 34 year old female (with two relatives diagnosed with breast cancer under the age of 45) has genetic testing done for BRCA mutations, resulting in the following variant:
<br>(BRCA1):c.5123C>T (p.Ala1708Val)

You now want to search ClinVar (at www.ncbi.nlm.nih.gov/clinvar) whether this mutation is pathogenic or not. What do you enter in the search field in order to get a specific entry for that genetic variation?
#c.5123C>T
#Ala1708Val
#brca Ala1708Val
#brca c.5123C>T
#c.5123C>T (p.Ala1708Val)
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| header = Click [Show] to see answer
| content = Correct answer: 3. brca Ala1708Val<br>ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708. The other entries show a list of results, where it may take substantial time to find the variant at hand.
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