chr7:117179041:GAAT> Detail (hg19) (CFTR)

Information

Genome

Assembly Position
hg19 chr7:117,179,041-117,179,044
hg38 chr7:117,538,987-117,538,990 

HGVS

Type Transcript Protein
RefSeq NM_000492.3:c.870-1113_870-1110delGAAT
Ensemble ENST00000003084.11:c.870-1113_870-1110delGAAT
ENST00000648260.1:c.870-1113_870-1110delGAAT
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 Likely pathogenic 2023-05-12 criteria provided, multiple submitters, no conflicts cystic fibrosis germline Detail
Pathogenic 2018-01-29 criteria provided, single submitter cystic fibrosis,CFTR-related disorder germline Detail
Pathogenic 2018-01-29 criteria provided, single submitter cystic fibrosis,CFTR-related disorder germline Detail
Likely pathogenic 2023-09-16 criteria provided, single submitter Bronchiectasis with or without elevated sweat chloride 1 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000492.4(CFTR):c.870-1113_870-1110del AND Cystic fibrosis ClinVar Detail
NM_000492.4(CFTR):c.870-1113_870-1110del AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.870-1113_870-1110del AND multiple conditions ClinVar Detail
NM_000492.4(CFTR):c.870-1113_870-1110del AND Bronchiectasis with or without elevated sweat chloride ... ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs397508809 dbSNP
Genome
hg19
Position
chr7:117,179,041-117,179,044
Variant Type
snv
Reference Allele
GAAT
Alternative Allele
-
Genome browser