chr7:117652915:G>A Detail (hg38) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,292,969-117,292,969 View the variant detail on this assembly version.
hg38 chr7:117,652,915-117,652,915

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.3947G>A NP_000483.3:p.Trp1316Ter
Ensemble ENST00000003084.11:c.3947G>A ENST00000003084.11:p.Trp1316Ter
ENST00000649781.2:c.3764G>A ENST00000649781.2:p.Trp1255Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1990-12-13 no assertion criteria provided cystic fibrosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.800 cystic fibrosis NA CLINVAR Detail
0.800 cystic fibrosis Severe deficiency of cystic fibrosis transmembrane conductance regulator messeng... BeFree 1721624 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter) AND Cystic fibrosis ClinVar Detail
NA DisGeNET Detail
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nons... 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
rs121909010 dbSNP
Genome
hg38
Position
chr7:117,652,915-117,652,915
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser