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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
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Mouse CFTR Genomic Sequence
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Mutation Details for c.3854C>T
cDNA Name
c.3854C>T
Protein Name
p.Ala1285Val
Exon or Intron
exon 23
Other Details
Contributors and Institutes
Kabir sachdeva
-
Sir Ganga Ram Hospital
Renu saxena
-
Sir Ganga Ram Hospital
I.C.Verma
-
Sir Ganga Ram Hospital
Submitted Phenotype Details
Congenital Bilateral Absence of Vas Deferens
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