rs145449046

Cystic Fibrosis related

plus

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)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117592541

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs145449046
dbSNP (classic)	rs145449046
ClinGen	rs145449046
ebi	rs145449046
HLI	rs145449046
Exac	rs145449046
Gnomad	rs145449046
Varsome	rs145449046
LitVar	rs145449046
Map	rs145449046
PheGenI	rs145449046
Biobank	rs145449046
1000 genomes	rs145449046
hgdp	rs145449046
ensembl	rs145449046
geneview	rs145449046
scholar	rs145449046
google	rs145449046
pharmgkb	rs145449046
gwascentral	rs145449046
openSNP	rs145449046
23andMe	rs145449046
SNPshot	rs145449046
SNPdbe	rs145449046
MSV3d	rs145449046
GWAS Ctlg	rs145449046

Max Magnitude

3

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

named i5011543 by 23andMe

ClinVar
Risk	rs145449046(G;G) rs145449046(T;T)
Alt	rs145449046(G;G) rs145449046(T;T)
Reference	Rs145449046(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis not specified
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not specified
Reversed	0
HGVS	NC_000007.13:g.117232595C>G; NC_000007.13:g.117232595C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046585.2, RCV000268386.1, 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?