rs397508263(C;G)
From SNPedia
| cystic fibrosis carrier (?) |
| Is a | genotype |
| of | rs397508263 |
| Gene | CFTR |
| Chromosome | 7 |
| Position | 117,587,834 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | carrier of a cystic fibrosis allele |
| (C;G) | 3 | cystic fibrosis carrier (?) |
| (G;G) | 0 | common in clinvar |
The (C) allele for this SNP is considered "CF-causing" in the CFTR2 database, however, it is not listed as pathogenic in ClinVar, and the numbering across databases is ambiguous, so overall the consequence of this genotype is currently unclear.
