Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.1111dupA
Protein Name
p.Ile371AsnfsX11
Exon or Intron
Other Details
This mutation was identified in the carrier mother of an infant who was diagnosed at six weeks with cystic fibrosis through neonatal screening. He presented as heterozygous for p.Phe508del and an unknown mutation.
Contributors and Institutes
unknown
-
unknown
Submitted Phenotype Details
The patient is a six-month-old Australian infant heterozygous with c.1111dupA and p.Phe508del. He presented as pancreatic sufficient at birth (with no other complications), and became pancreatic insufficient around four months of age. No pulmonary symptoms have been evident so far.
Reference
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The Database was last updated at Apr 25, 2011
