rs121908744

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;T)	3	cystic fibrosis carrier
(T;T)	0	common in clinvar

Make rs121908744(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117540178

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908744
dbSNP (classic)	rs121908744
ClinGen	rs121908744
ebi	rs121908744
HLI	rs121908744
Exac	rs121908744
Gnomad	rs121908744
Varsome	rs121908744
LitVar	rs121908744
Map	rs121908744
PheGenI	rs121908744
Biobank	rs121908744
1000 genomes	rs121908744
hgdp	rs121908744
ensembl	rs121908744
geneview	rs121908744
scholar	rs121908744
google	rs121908744
pharmgkb	rs121908744
gwascentral	rs121908744
openSNP	rs121908744
23andMe	rs121908744
SNPshot	rs121908744
SNPdbe	rs121908744
MSV3d	rs121908744
GWAS Ctlg	rs121908744

Max Magnitude

3

Cystic fibrosis; c.948delT or 1078delT or Phe316Leufs

named i4000316 and i5011056 by 23andMe

OMIM	602421
Desc
Variant	0059
Related	also

ClinVar
Risk	rs121908744(-;-)
Alt	rs121908744(-;-)
Reference	Rs121908744(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis not provided Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117180232delT
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000007583.6, RCV000079016.3, RCV000397124.1,

[PMID 1379211] A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.

[PMID 19324992] Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.