chr7:117509093:G>T Detail (hg38) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,149,147-117,149,147 View the variant detail on this assembly version.
hg38 chr7:117,509,093-117,509,093

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.224G>T NP_000483.3:p.Arg75Leu
Ensemble ENST00000003084.11:c.224G>T ENST00000003084.11:p.Arg75Leu
ENST00000648260.1:c.224G>T ENST00000648260.1:p.Arg75Leu
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 Uncertain significance
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
Uncertain significance 2023-03-24 criteria provided, multiple submitters, no conflicts cystic fibrosis germline Detail
Uncertain significance 2023-10-02 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-05-09 criteria provided, multiple submitters, no conflicts not provided germline 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
0.005 Idiopathic chronic pancreatitis Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants signifi... BeFree 20977904 Detail
0.225 pancreatitis The CFTR variant p.R75Q causes a selective defect in bicarbonate conductance and... BeFree 20977904 Detail
0.007 Idiopathic chronic pancreatitis Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants signifi... BeFree 20977904 Detail
0.020 Chronic Obstructive Airway Disease High frequency of the R75Q CFTR variation in patients with chronic obstructive p... BeFree 15463907 Detail
0.225 pancreatitis Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significa... BeFree 24451227 Detail
0.238 pancreatitis Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significa... BeFree 24451227 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) AND not provided ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants significantly increases the... DisGeNET Detail
The CFTR variant p.R75Q causes a selective defect in bicarbonate conductance and increases risk of p... DisGeNET Detail
Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants significantly increases the... DisGeNET Detail
High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease. DisGeNET Detail
Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significant risk of pancreati... DisGeNET Detail
Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significant risk of pancreati... 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
rs1800076 dbSNP
Genome
hg38
Position
chr7:117,509,093-117,509,093
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121258
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.246878556466378E-6
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