HGMD, Cardiff

Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) ABCC7

Gene symbol : CFTR

Location : 7q31

In association with Celera Genomics


Mutations in this gene were first reported in 1989

Riordan (1989) Science 245, 1066


Number of entries by mutation type

Click on the respective mutation type to view detailed information about the mutations as logged in HGMD.

Mutation type Total number of mutations
Nucleotide substitutions (missense / nonsense) 591
Nucleotide substitutions (splicing) 139
Nucleotide substitutions (regulatory) 7
Small deletions 169
Small insertions 61
Small indels 12
Gross deletions 22
Gross insertions & duplications 1
Complex rearrangements (including inversions) 8
Repeat variations 1
TOTAL 1011

Number of entries by phenotype

Phenotype Nucleotide
substitutions
Micro-lesions Gross lesions
Asthma 3 0 0
Cystic fibrosis 647 232 29
Pancreatitis, idiopathic 1 1 0
Congenital absence of vas deferens 40 5 1
Cystic fibrosis ? 30 3 1
Pancreatitis, hereditary 2 0 0
Hypertrypsinaemia, low sweat chloride 3 0 0
Primary sclerosing cholangitis 2 0 0
Sarcoidosis, susceptibility to 2 0 0
Bronchiectasis, idiopathic 1 0 0
Elevated sweat chloride concentration 1 0 0
Hypertrypsinaemia, neonatal 1 0 0
Bronchiectasis 1 0 0
Congenital absence of vas deferens ? 2 0 0
Obstructive azoospermia 1 0 0
Lung disease, association with 0 1 0
Congenital absence of vas deferens, association 0 0 1

Clicking on the respective phenotype will start a search for that item at the OMIM web site. As HGMD only records the first literature report of a mutation, the possibility that reported mutations may be responsible for more than one disease state cannot be ruled out.


Associated data -
Mutation map
cDNA sequence
Splice junctions
HGMD options -
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External sites -
OMIM entry for CFTR
GDB entry for CFTR
GenAtlas entry for CFTR
Nomenclature entry for CFTR
GeneCards entry for CFTR
LocusLink entry for CFTR
Genetic Association Database entry for CFTR
Coriell entry for CFTR
Cystic fibrosis database

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