rs144055758

plus

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

Make rs144055758(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117610625

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs144055758
dbSNP (classic)	rs144055758
ClinGen	rs144055758
ebi	rs144055758
HLI	rs144055758
Exac	rs144055758
Gnomad	rs144055758
Varsome	rs144055758
LitVar	rs144055758
Map	rs144055758
PheGenI	rs144055758
Biobank	rs144055758
1000 genomes	rs144055758
hgdp	rs144055758
ensembl	rs144055758
geneview	rs144055758
scholar	rs144055758
google	rs144055758
pharmgkb	rs144055758
gwascentral	rs144055758
openSNP	rs144055758
23andMe	rs144055758
SNPshot	rs144055758
SNPdbe	rs144055758
MSV3d	rs144055758
GWAS Ctlg	rs144055758

Max Magnitude

3

aka c.3095A>G, p.Tyr1032Cys or Y1032C

In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 20.6% of wild-type CFTR activity.[PMID 29805046 ]

ClinVar
Risk	rs144055758(G;G)
Alt	rs144055758(G;G)
Reference	Rs144055758(A;A)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117250679A>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029516.2,

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

[PMID 12133923] Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.

[PMID 16801189] Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

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