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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.76A>G
cDNA Name
c.76A>G
Protein Name
p.Lys26Glu
Exon or Intron
exon 3
Other Details
With F508del but phase unknown.
Contributors and Institutes
Schwarz MJ
-
St Mary's Hospital Manchester
Brock JL
-
St Mary's Hospital Manchester
Adaway M
-
St Mary's Hospital Manchester
Shorto J
-
St Mary's Hospital Manchester
Charlton C
-
St Mary's Hospital Manchester
Submitted Phenotype Details
CBAVD
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