Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 3 carrier of a cystic fibrosis allele
(T;T) 0 common in clinvar


Make rs121908789(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642493
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908789
ebirs121908789
HLIrs121908789
Exacrs121908789
Varsomers121908789
Maprs121908789
PheGenIrs121908789
hapmaprs121908789
1000 genomesrs121908789
hgdprs121908789
ensemblrs121908789
gopubmedrs121908789
geneviewrs121908789
scholarrs121908789
googlers121908789
pharmgkbrs121908789
gwascentralrs121908789
openSNPrs121908789
23andMers121908789
23andMe allrs121908789
SNP Nexus

SNPshotrs121908789
SNPdbers121908789
MSV3drs121908789
GWAS Ctlgrs121908789
Max Magnitude3

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.


ClinVar
Risk rs121908789(TA,TT;TA,TT)
Alt rs121908789(TA,TT;TA,TT)
Reference rs121908789(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282547dupT
CLNSRC CFTR2
CLNACC RCV000046980.5,



[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.


[PMID 15371902OA-icon.png] 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.