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rs145449046

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 cystic fibrosis carrier (most likely)
(C;T) 3 cystic fibrosis carrier
Make rs145449046(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592541
GeneCFTR
is asnp
is mentioned by
dbSNPrs145449046
ebirs145449046
HLIrs145449046
Exacrs145449046
Varsomers145449046
Maprs145449046
PheGenIrs145449046
hapmaprs145449046
1000 genomesrs145449046
hgdprs145449046
ensemblrs145449046
gopubmedrs145449046
geneviewrs145449046
scholarrs145449046
googlers145449046
pharmgkbrs145449046
gwascentralrs145449046
openSNPrs145449046
23andMers145449046
23andMe allrs145449046
SNP Nexus

SNPshotrs145449046
SNPdbers145449046
MSV3drs145449046
GWAS Ctlgrs145449046
Max Magnitude3

Cystic fibrosis; c.2374C>T, p.Arg792Ter, as well as c.2374C>G, p.Arg792Gly

named i5011543 by 23andMe

ClinVar
Risk rs145449046(G,T;G,T)
Alt rs145449046(G,T;G,T)
Reference rs145449046(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232595C>G; NC_000007.13:g.117232595C>T
CLNSRC CFTR2
CLNACC RCV000046585.2, RCV000046586.3,


[PMID 9736778] Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

[PMID 10878476] Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens.

[PMID 12940920] The phenotypic consequences of CFTR mutations.

[PMID 20059485] Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?