chr7:117587778:G>T Detail (hg38) (CFTR, LOC111674475)

Information

Genome

Assembly Position
hg19 chr7:117,227,832-117,227,832 View the variant detail on this assembly version.
hg38 chr7:117,587,778-117,587,778

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.1624G>T NP_000483.3:p.Gly542Ter
Ensemble ENST00000003084.11:c.1624G>T ENST00000003084.11:p.Gly542Ter
ENST00000648260.1:c.1402-15048G>T
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2023/02/27 ascending colon germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-03-03 practice guideline cystic fibrosis germline inherited paternal unknown Detail
Pathogenic 2023-03-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
not provided no assertion provided Hereditary pancreatitis germline Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis germline unknown Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis germline unknown Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis germline unknown Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts Bronchiectasis with or without elevated sweat chloride 1,Congenital bilateral aplasia of vas deferens from CFTR mutation,Hereditary pancreatitis,cystic fibrosis germline 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 2023-12-14 criteria provided, single submitter CFTR-related disorder germline Detail
Pathogenic 2023-10-31 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 The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified wer... BeFree 11883825 Detail
0.800 cystic fibrosis We report the case of a patient suffering from idiopathic chronic pancreatitis (... BeFree 14586256 Detail
0.800 cystic fibrosis Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of th... BeFree 19136563 Detail
0.800 cystic fibrosis Using a mouse model for cystic fibrosis (CF), we show that s.c. injection or ora... BeFree 18272502 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND Hereditary pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) 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
The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified were delF508, D1152H, R... DisGeNET Detail
We report the case of a patient suffering from idiopathic chronic pancreatitis (ICP) and compound he... DisGeNET Detail
Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutatio... DisGeNET Detail
Using a mouse model for cystic fibrosis (CF), we show that s.c. injection or oral administration of ... 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
rs113993959 dbSNP
Genome
hg38
Position
chr7:117,587,778-117,587,778
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8634
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)
120804
Allele Counts in All Race (ExAC)
32
Heterozygous Counts in All Race (ExAC)
32
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.6489189099698687E-4
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