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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
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Mouse CFTR Genomic Sequence
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Mutation Details for c.273+2t>G
Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.273+2t>G
Exon or Intron
Other Details
Contributors and Institutes
Martin Schwarz
-
St Mary's Hospital, Manchester
Jo Brock
-
St Mary's Hospital, Manchester
Jenny Shorto
-
St Mary's Hospital, Manchester
Megan Adaway
-
St Mary's Hospital, Manchester
Submitted Phenotype Details
3 year-old girl with a positive diagnosis of CF. Originally picked up on Newborn Screening as homozygous for the mutation.
Reference
To check if there are any papers published about this mutation/variant on PubMed, please
click here.
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The Database was last updated at Apr 25, 2011