CFTR |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CFTR (HGNC:1884) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CF transmembrane conductance regulator
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CF, ABCC7
- Alias symbols
- MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP
- %HI
- 2.33(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.15(Read more about gnomAD LOEUF score)
- Cytoband
- 7q31.2
- Genomic Coordinates
-
GRCh37/hg19: chr7:117120079-117308719 NCBI Ensembl UCSC GRCh38/hg38: chr7:117480025-117668665 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000492.4 ENST00000003084.11 (Read more about MANE Select)
- Function
- Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474,... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30165
ClinGen Curation ID:
CCID:006848
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- cystic fibrosis Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)