chr7:117587811:C>T Detail (hg38) (CFTR, LOC111674475)

Information

Genome

Assembly Position
hg19 chr7:117,227,865-117,227,865 View the variant detail on this assembly version.
hg38 chr7:117,587,811-117,587,811

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.1657C>T NP_000483.3:p.Arg553Ter
Ensemble ENST00000003084.11:c.1657C>T ENST00000003084.11:p.Arg553Ter
ENST00000648260.1:c.1402-15015C>T
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 tgv264706399 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 unknown Detail
Pathogenic 2023-10-23 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-04-13 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis,cystic fibrosis unknown Detail
Pathogenic 2022-04-13 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis,cystic fibrosis unknown Detail
Pathogenic 2022-04-13 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis,cystic fibrosis unknown Detail
Pathogenic 2022-04-13 criteria provided, single submitter Congenital bilateral aplasia of vas deferens from CFTR mutation,Bronchiectasis with or without elevated sweat chloride 1,Hereditary pancreatitis,cystic fibrosis unknown Detail
Pathogenic 2017-10-06 criteria provided, single submitter not specified germline 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 2023-10-03 criteria provided, single submitter CFTR-related disorder germline Detail
Pathogenic 2023-10-25 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
0.800 cystic fibrosis Severe deficiency of cystic fibrosis transmembrane conductance regulator messeng... BeFree 1721624 Detail
0.800 cystic fibrosis We have studied the effects of the stop mutation R553X in exon 11 of the CFTR ge... BeFree 7514569 Detail
<0.001 chronic pulmonary heart disease Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 an... BeFree 22992393 Detail
<0.001 Cor pulmonale Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 an... BeFree 22992393 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) AND Bronchiectasis with or without elevated sweat chloride... ClinVar Detail
NA DisGeNET Detail
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nons... DisGeNET Detail
We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA... DisGeNET Detail
Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with c... DisGeNET Detail
Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with c... 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
rs74597325 dbSNP
Genome
hg38
Position
chr7:117,587,811-117,587,811
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8628
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)
120430
Allele Counts in All Race (ExAC)
15
Heterozygous Counts in All Race (ExAC)
15
Allele Frequency in All Race (ExAC)
1.2455368263721665E-4
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