rs193922525

Cystic Fibrosis related

plus

Geno	Mag	Summary
(A;G)	3	cystic fibrosis carrier
(G;G)	0	common in clinvar

Make rs193922525(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117664770

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs193922525
dbSNP (classic)	rs193922525
ClinGen	rs193922525
ebi	rs193922525
HLI	rs193922525
Exac	rs193922525
Gnomad	rs193922525
Varsome	rs193922525
LitVar	rs193922525
Map	rs193922525
PheGenI	rs193922525
Biobank	rs193922525
1000 genomes	rs193922525
hgdp	rs193922525
ensembl	rs193922525
geneview	rs193922525
scholar	rs193922525
google	rs193922525
pharmgkb	rs193922525
gwascentral	rs193922525
openSNP	rs193922525
23andMe	rs193922525
SNPshot	rs193922525
SNPdbe	rs193922525
MSV3d	rs193922525
GWAS Ctlg	rs193922525

Max Magnitude

3

Cystic fibrosis; c.4046G>A, p.Gly1349Asp

named i5012121 by 23andMe

ClinVar
Risk	rs193922525(A;A)
Alt	rs193922525(A;A)
Reference	Rs193922525(G;G)
Significance	Drug-response
Disease	Cystic fibrosis ivacaftor response - Efficacy
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis ivacaftor response - Efficacy
Reversed	0
HGVS	NC_000007.13:g.117304824G>A
CLNSRC	PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000029536.3, RCV000211255.1,

[PMID 995076] [The Wolff-Parkinson-White syndrome. Report of 3 cases and clinical considerations].

[PMID 9272157] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

[PMID 11242048 ] Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

[PMID 12124743] Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

[PMID 17578899] Discovery of alpha-aminoazaheterocycle-methylglyoxal adducts as a new class of high-affinity inhibitors of cystic fibrosis transmembrane conductance regulator chloride channels.

[PMID 19114635 ] Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.