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

rs121908799

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
(AA;G) 3 carrier of a cystic fibrosis allele
Make rs121908799(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592218
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908799
ebirs121908799
HLIrs121908799
Exacrs121908799
Varsomers121908799
Maprs121908799
PheGenIrs121908799
hapmaprs121908799
1000 genomesrs121908799
hgdprs121908799
ensemblrs121908799
gopubmedrs121908799
geneviewrs121908799
scholarrs121908799
googlers121908799
pharmgkbrs121908799
gwascentralrs121908799
openSNPrs121908799
23andMers121908799
23andMe allrs121908799
SNP Nexus

SNPshotrs121908799
SNPdbers121908799
MSV3drs121908799
GWAS Ctlgrs121908799
Max Magnitude3

rs121908799, also known as 2183AA->G, 2051_2052delAAinsG and Lys684SerfsTer38, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.

23andMe refers to this SNP as i5011482 and i4000319


ClinVar
Risk rs121908799(A,AG;A,AG)
Alt rs121908799(A,AG;A,AG)
Reference rs121908799(AAA;AAA)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232272_117232273delAAinsG
CLNSRC CFTR2
CLNACC RCV000029492.4,



[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 7517268] Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.


[PMID 7525450] Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.


[PMID 7543317] Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.


[PMID 15176679] Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.


[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.

OMIM602421
Desc
Variant
Relatedalso