Localize the variant from the Crispr embryon editing paper
0
0
Entering edit mode
7.3 years ago
sacha ★ 2.4k

I m just reading the famous paper Correction of a pathogenic gene mutation in human embryos published recently. I m trying to localize the deletion corrected on IGV or other genom browser. In the paper, they said :

    by a heterozygous dominant 4-bp GAGT deletion (g.9836_9839 del.,NC_000011.10) 
   in exon 16 of MYBPC3
  • So, I didn't find any 4-bp GAGT in Omim or clinvar . But I may be wrong..
  • I don't understand the location. the prefix "g" should tell me it's a genomics coordination. But with those numbers it's not possible..
  • What the purpose of NC_000011.10 ? It's a NCBI Id of chromosom 11....

If you find the location, please explain how you proceed. Thanks

SNP indel localize MYBPC3 • 1.3k views
ADD COMMENT

Login before adding your answer.

Traffic: 2683 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6