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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
CFTR Domains
Mouse CFTR Genomic Sequence
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Mutation Details for c.137C>T
cDNA Name
c.137C>T
Protein Name
p.Ala46Val
Exon or Intron
exon 2
Legacy Exon or Intron
exon 2
Legacy Name
A46V
Other Details
Contributors
E. Rohlfs
Institute
Submitted Phenotype Details
positive newborn screening test
Reference
not published
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