chr7:117587806:G>A Detail (hg38) (CFTR, LOC111674475)

Information

Genome

Assembly Position
hg19 chr7:117,227,860-117,227,860 View the variant detail on this assembly version.
hg38 chr7:117,587,806-117,587,806

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.1652G>A NP_000483.3:p.Gly551Asp
Ensemble ENST00000003084.11:c.1652G>A ENST00000003084.11:p.Gly551Asp
ENST00000648260.1:c.1402-15020G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602421 OMIM
HGNC 1884 HGNC
Ensembl ENSG00000001626 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-03-03 practice guideline cystic fibrosis germline maternal unknown Detail
not provided no assertion provided Hereditary pancreatitis germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic 2023-10-27 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-03-26 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis unknown Detail
Pathogenic 2022-03-26 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis unknown Detail
Pathogenic 2022-03-26 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis unknown Detail
Pathogenic 2022-03-26 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis unknown Detail
Pathogenic criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis germline Detail
Pathogenic criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis germline Detail
Pathogenic 2023-04-27 criteria provided, single submitter CFTR-related disorder germline Detail
Pathogenic 2023-10-30 criteria provided, single submitter Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.800 cystic fibrosis NA CLINVAR Detail
0.800 cystic fibrosis Two adult sisters affected by cystic fibrosis were both shown to carry two diffe... BeFree 7681035 Detail
0.121 Hereditary pancreatitis NA CLINVAR Detail
0.800 cystic fibrosis Differential sensitivity of the cystic fibrosis (CF)-associated mutants G551D an... BeFree 16311240 Detail
0.800 cystic fibrosis This randomized, double-blind, placebo-controlled trial evaluated ivacaftor in p... BeFree 23590265 Detail
0.800 cystic fibrosis The G551D cystic fibrosis transmembrane conductance regulator (CFTR) mutation is... BeFree 25148434 Detail
0.800 cystic fibrosis Clinical mechanism of the cystic fibrosis transmembrane conductance regulator po... BeFree 24927234 Detail
0.001 Signs and Symptoms, Respiratory Ivacaftor (VX-770), a cystic fibrosis transmembrane conductance regulator (CFTR)... BeFree 23590265 Detail
0.004 Pancreatic Insufficiency In the heterozygous state, the cystic fibrosis transmembrane conductance regulat... BeFree 8863168 Detail
0.800 cystic fibrosis Mechanism of G551D-CFTR (cystic fibrosis transmembrane conductance regulator) po... BeFree 18167357 Detail
<0.001 Diaphoresis Adverse Event To determine if oral dosing with the CFTR-potentiator ivacaftor (VX-770, Kalydec... BeFree 24520399 Detail
0.800 cystic fibrosis Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentia... BeFree 25311995 Detail
0.800 cystic fibrosis Recently, ivacaftor, a CFTR-potentiator, has been shown to be effective and safe... BeFree 23757359 Detail
0.800 cystic fibrosis A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. BeFree 22047557 Detail
0.026 exocrine pancreatic insufficiency In the heterozygous state, the cystic fibrosis transmembrane conductance regulat... BeFree 8863168 Detail
0.800 cystic fibrosis Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. BeFree 21083385 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND Hereditary pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND ivacaftor response - Efficacy ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) AND Bronchiectasis with or without elevated sweat chloride... ClinVar Detail
NA DisGeNET Detail
Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations wit... DisGeNET Detail
NA DisGeNET Detail
Differential sensitivity of the cystic fibrosis (CF)-associated mutants G551D and G1349D to potentia... DisGeNET Detail
This randomized, double-blind, placebo-controlled trial evaluated ivacaftor in patients with cystic ... DisGeNET Detail
The G551D cystic fibrosis transmembrane conductance regulator (CFTR) mutation is associated with sev... DisGeNET Detail
Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor ... DisGeNET Detail
Ivacaftor (VX-770), a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, has be... DisGeNET Detail
In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mu... DisGeNET Detail
Mechanism of G551D-CFTR (cystic fibrosis transmembrane conductance regulator) potentiation by a high... DisGeNET Detail
To determine if oral dosing with the CFTR-potentiator ivacaftor (VX-770, Kalydeco) improves CFTR-dep... DisGeNET Detail
Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, is approved for... DisGeNET Detail
Recently, ivacaftor, a CFTR-potentiator, has been shown to be effective and safe in patients with cy... DisGeNET Detail
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. DisGeNET Detail
In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mu... DisGeNET Detail
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs75527207 dbSNP
Genome
hg38
Position
chr7:117,587,806-117,587,806
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120552
Allele Counts in All Race (ExAC)
17
Heterozygous Counts in All Race (ExAC)
17
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.410179839405402E-4
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