| Geno
|
Mag
|
Summary
|
| (-;-)
|
0
|
common in clinvar
|
| (-;T)
|
3
|
carrier of a cystic fibrosis allele
|
| (T;T)
|
0
|
common in clinvar
|
rs121908789 is reported as a pathogenic SNP for cystic fibrosis in several sources, however, there is ambiguity in how it is reported so be sure to double-check any results regarding this SNP. This SNP is also known as c.3773dupT, p.Leu1258PhefsTer7, and perhaps most commonly, 3905insT.
In genome build GRCh37, the position for this SNP on chromosome 7 is 117282547:117282548 (where the additional insertion of a T takes place).
23andMe uses it's own code names for this SNP, namely i4000324 and i5012017. For these two SNPs, the common/normal allele is 'D', and therefore the common/normal genotype is DD.
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 15371902
] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
