chr7:117530974:C>G Detail (hg38) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,171,028-117,171,028 View the variant detail on this assembly version.
hg38 chr7:117,530,974-117,530,974

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.349C>G NP_000483.3:p.Arg117Gly
Ensemble ENST00000003084.11:c.349C>G ENST00000003084.11:p.Arg117Gly
ENST00000648260.1:c.349C>G ENST00000648260.1:p.Arg117Gly
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 Conflicting classifications of pathogenicity
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 2016-11-18 criteria provided, single submitter not specified germline Detail
Conflicting interpretations of pathogenicity 2024-01-25 criteria provided, conflicting interpretations cystic fibrosis germline unknown Detail
Pathogenic 2019-08-10 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-01-18 criteria provided, single submitter CFTR-related disorder germline Detail
Likely 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
0.003 Bronchial Hyperreactivity Possible associations between asthma, reduced lung function, bronchial hyperresp... BeFree 16678395 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) AND CFTR-related disorder ClinVar Detail
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) AND Bronchiectasis with or without elevated sweat chloride ... ClinVar Detail
NA DisGeNET Detail
Possible associations between asthma, reduced lung function, bronchial hyperresponsiveness (BHR), an... 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
rs77834169 dbSNP
Genome
hg38
Position
chr7:117,530,974-117,530,974
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8614
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
120360
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.661681621801263E-5
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