chr7:117199646:CTT> Detail (hg19) (CFTR, CFTR-AS1, LOC111674472)

Information

Genome

Assembly Position
hg19 chr7:117,199,646-117,199,648
hg38 chr7:117,559,592-117,559,594 

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.1521_1523delCTT NP_000483.3:p.Phe508del
Ensemble ENST00000003084.11:c.1521_1523delCTT ENST00000003084.11:p.Phe508del
ENST00000648260.1:c.1338_1340delCTT ENST00000648260.1:p.Phe447del
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 COSM1684119 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other unknown MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-03-03 practice guideline cystic fibrosis germline inherited maternal paternal unknown Detail
risk factor 2015-05-17 no assertion criteria provided Bronchiectasis with or without elevated sweat chloride 1, modifier of germline Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-03-01 criteria provided, multiple submitters, no conflicts Hereditary pancreatitis germline unknown Detail
Likely pathogenic 2017-01-01 criteria provided, single submitter unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter unknown Detail
Pathogenic 2019-03-11 reviewed by expert panel cystic fibrosis germline Detail
Pathogenic criteria provided, multiple submitters, no conflicts Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis germline inherited Detail
Pathogenic criteria provided, multiple submitters, no conflicts Congenital bilateral aplasia of vas deferens from CFTR mutation,cystic fibrosis inherited germline Detail
Pathogenic 2021-08-23 criteria provided, single submitter germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic 2024-01-19 criteria provided, single submitter CFTR-related disorder germline Detail
Pathogenic 2022-02-01 criteria provided, single submitter cystic fibrosis,Hereditary pancreatitis germline Detail
Pathogenic 2022-02-01 criteria provided, single submitter cystic fibrosis,Hereditary pancreatitis germline Detail
Pathogenic 2019-05-03 criteria provided, single submitter germline Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis germline unknown Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis germline unknown Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis germline unknown Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts cystic fibrosis,Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis germline unknown Detail
Pathogenic criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation germline Detail
Pathogenic 2024-02-15 criteria provided, multiple submitters, no conflicts Bronchiectasis with or without elevated sweat chloride 1 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.800 cystic fibrosis NA CLINVAR Detail
0.121 Hereditary pancreatitis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Cystic fibrosis ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Bronchiectasis with or without elevated sweat chl... ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND not provided ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Hereditary pancreatitis ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Duodenal stenosis ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Recurrent pancreatitis ClinVar Detail
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C] AND Cystic fibrosis ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND multiple conditions ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND multiple conditions ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Obstructive azoospermia ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND ivacaftor / lumacaftor response - Efficacy ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND ivacaftor / tezacaftor response - Efficacy ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND CFTR-related disorder ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND multiple conditions ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND multiple conditions ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND See cases ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND multiple conditions ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND multiple conditions ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND multiple conditions ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND multiple conditions ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Congenital bilateral aplasia of vas deferens from... ClinVar Detail
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND Bronchiectasis with or without elevated sweat chl... ClinVar Detail
NA DisGeNET Detail
NA 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
rs113993960 dbSNP
Genome
hg19
Position
chr7:117,199,646-117,199,648
Variant Type
snv
Reference Allele
CTT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8646
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)
121296
Allele Counts in All Race (ExAC)
823
Heterozygous Counts in All Race (ExAC)
823
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.006785054742118454
Genome browser