chr7:117530974:C>A 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>A NP_000483.3:p.Arg117Ser
Ensemble ENST00000003084.11:c.349C>A ENST00000003084.11:p.Arg117Ser
ENST00000648260.1:c.349C>A ENST00000648260.1:p.Arg117Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv30710771 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
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
-
Genome
hg38
Position
chr7:117,530,974-117,530,974
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
136.13
Standard deviation of sample read depth (HGVD)
62.66
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
CFTR
East Asian Chromosome Counts (ExAC)
8614
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)
120360
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)
8.308408109006315E-6
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