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i4000314(G;T)

From SNPedia

Cystic Fibrosis carrier
is agenotype
ofI4000314
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 3 Cystic Fibrosis carrier
(T;T) 5 Cystic Fibrosis

This mutation is also known as 621+1G>T and 489+1G>T. It is a Class I splicing mutation, indicating it results in a premature termination codon. If a CF carrier has a child with another CF carrier, then the child has a 25% chance of having Cystic Fibrosis.

In SNPedia and the rest of the world (i.e. outside of the company 23andMe), this SNP is known as rs78756941.