I have a specific mutation for the CFTR gene but can't find a way to find that position in order to pull out on gnoMAD as they might have specific annotation for it. For example the mutation i am working on c.164+3083C>G(intron 2) in CFTR gene at position 53298. How can i find it in gnoMAD? Sorry if its easy and asking this question as i am new to the area and trying to learn. Thank you so much in advance!
Question: gnoMAD specific mutation allele position in gnoMAD
8 days ago by
dshdixit • 10
dshdixit • 10 wrote:
ADD COMMENT • link •
7 days ago by
finswimmer ♦ 13k
finswimmer ♦ 13k wrote:
you have to find out the genomic location of the variant. Than you can use this position to search in gnomad.
ADD COMMENT • link
Please log in to add an answer.
Powered by Biostar version 2.3.0
Traffic: 1344 users visited in the last hour