rs113993959

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	normal
(G;T)	3	carrier for G542X cystic fibrosis mutation
(T;T)	4	Cystic Fibrosis; homozygote for G542X mutation

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587778

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs113993959
dbSNP (classic)	rs113993959
ClinGen	rs113993959
ebi	rs113993959
HLI	rs113993959
Exac	rs113993959
Gnomad	rs113993959
Varsome	rs113993959
LitVar	rs113993959
Map	rs113993959
PheGenI	rs113993959
Biobank	rs113993959
1000 genomes	rs113993959
hgdp	rs113993959
ensembl	rs113993959
geneview	rs113993959
scholar	rs113993959
google	rs113993959
pharmgkb	rs113993959
gwascentral	rs113993959
openSNP	rs113993959
23andMe	rs113993959
SNPshot	rs113993959
SNPdbe	rs113993959
MSV3d	rs113993959
GWAS Ctlg	rs113993959

Max Magnitude

4

rs113993959, also known as c.1624G>T, Gly542Ter or G542X, is a SNP in the CFTR cystic fibrosis gene. This mutation is fairly rare, but in Ashkenazi Jews it accounts for ~13% of all cases of cystic fibrosis. See also OMIM 602421.0009.

In 23andMe, rs113993959 may be called one of several names: i4000300, i5006109 or i5011314.

OMIM	602421
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs113993959(T;T)
Alt	Rs113993959(T;T)
Reference	Rs113993959(G;G)
Significance	Drug-response
Disease	Cystic fibrosis not provided Hereditary pancreatitis ataluren response - Efficacy
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided Hereditary pancreatitis ataluren response - Efficacy
Reversed	0
HGVS	NC_000007.13:g.117227832G>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000007535.11, RCV000058931.5, RCV000119041.3, RCV000417172.1,

[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.