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Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
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Mouse CFTR Genomic Sequence
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Mutation Details for c.2490+5g>T
Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.2490+5g>T
Exon or Intron
Other Details
This mutation was detected in a patient's partner and probably affects the exon 14 splicing.
Contributors and Institutes
Alberto Bonizzato
-
Laboratorio Analisi - Ospedale Civile Maggiore di Verona (Italy).
Submitted Phenotype Details
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