chr7:117509089:C>T Detail (hg38) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,149,143-117,149,143 View the variant detail on this assembly version.
hg38 chr7:117,509,089-117,509,089

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.220C>T NP_000483.3:p.Arg74Trp
Ensemble ENST00000003084.11:c.220C>T ENST00000003084.11:p.Arg74Trp
ENST00000648260.1:c.220C>T ENST00000648260.1:p.Arg74Trp
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 drug response
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 tgv351811719 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-03-25 criteria provided, conflicting interpretations cystic fibrosis germline unknown Detail
Conflicting interpretations of pathogenicity 2023-10-27 criteria provided, conflicting interpretations not provided germline unknown Detail
Conflicting interpretations of pathogenicity 2023-01-30 criteria provided, conflicting interpretations not specified germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Uncertain significance 2023-10-06 criteria provided, single submitter not specified germline Detail
Likely benign 2020-12-21 criteria provided, single submitter Hereditary pancreatitis germline Detail
Uncertain significance 2023-12-08 criteria provided, single submitter CFTR-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.509 Congenital bilateral aplasia of vas deferens NA CLINVAR Detail
0.800 cystic fibrosis NA CLINVAR Detail
0.121 Hereditary pancreatitis NA CLINVAR Detail
0.509 Congenital bilateral aplasia of vas deferens We found that R74W cystic fibrosis transmembrane conductance regulator appears t... BeFree 10386624 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) AND not provided ClinVar Detail
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) AND not specified ClinVar Detail
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) AND ivacaftor response - Efficacy ClinVar Detail
NM_000492.4(CFTR):c.[220C>T;3808G>A] AND not specified ClinVar Detail
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) AND Hereditary pancreatitis ClinVar Detail
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) AND CFTR-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism,... 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
rs115545701 dbSNP
Genome
hg38
Position
chr7:117,509,089-117,509,089
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
9
East Asian Heterozygous Counts (ExAC)
9
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0010414255959268687
Chromosome Counts in All Race (ExAC)
121278
Allele Counts in All Race (ExAC)
209
Heterozygous Counts in All Race (ExAC)
207
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0017233133791784165
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