This reference sequence is a complete map of the CFTR gene
from the promoter region to the 3'UTR.
promoter region (including 5'UTR): -1071 to -1
exon 1 starts at position 1 (at first coding sequence)
3'UTR: *1 to *1553
promoter region (including 5'UTR): 1 to 1071
exon 1 starts at position 1072 (at first coding sequence)
3'UTR: 188086 to 189638
Coding: use this option to report any mutation that is positioned in any exon,
or for any intronic variant that can be easily referenced to most proximal exon end.
Genomic: use the provided reference sequence to report intronic mutations
that could not be easily anchored to a proximal exon.
CODING: position 1 is base A of the ATG of codon 1.
GENOMIC: position 1 is the first base of the promoter region
The base in the reference sequence involved in the substitution
(should agree with our reference sequence at the given locus).
The base found as a result of the substitution.
cDNA name as specified by HGVS 2007 guidelines.
genomic name as specified by HGVS 2007 guidelines.
Protein name as specified by HGVS 2007 guidelines.
Second mutation co-segregating with submitted mutation. Please add comments in 'Other Details', below.
common second CF allele, if present (add details below)
enter a keyword to search for the second allele in our database
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Provide patient information including age, ethnicity, geographic region, sweat chloride levels,
pancreatic status and general description of lung disease severity (infection status, FEV).
Provide relevant non-phenotypic details.
List contributors and their institution, one per line,
separated by a semicolon. e.g.:
person 1;institute A
person 2;institute B
Publication reference for the mutation being submitted.
Provide the name of a contact person who can be reached
for questions and clarifications regarding this submission.
Phone number of the contact person (see above).
This field is optional and will not be published online.
Email address of the contact person (see above).
Institution of the contact person (see above).
New CFTR Mutation Submission and Evaluation Form