Mutation Details for c.349C>G
|
|
cDNA Name
|
c.349C>G
|
|
Protein Name
|
p.Arg117Gly
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
R117G
|
|
Other Details
|
Was reported previously in one study of CBAVD. R117G/UND 7T/9T (Daudin et al., Fertility and Sterility, 74:1164-1174, 2000).
|
|
Contributors
|
Michele Caggana
2005-04-11
|
|
Institute
|
New York State Department of Health, Division of Genetic Disorders, Newborn Screening Program
|
|
Submitted Phenotype Details
|
Female infant identified by newborn screening with genotype Del F508/R117G, 7T/7T. Sweat chloride was 14 mmol/L.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
