Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR MUTATION
CFTR MUTATION - Associated Disease
- male infertility
- Source Database
- DisGeNET
- Description
- The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR protein, was initially reported in patients with male infertility.
- Pubmed
- 25443471
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD
- DisGENET score for the Gene Disease association
- 0.168111357926563
Drugs