Mutation Details for c.2620-15C>G
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cDNA Name
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c.2620-15C>G
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Exon or Intron
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intron 15
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Legacy Exon or Intron
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intron 14a
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2752-15C/G
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Other Details
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The sequence variant 2752-15 C->G is located within the branch/acceptor splice site preceding exon 14b. This transversion was associated with the previously reported mutation K68N on the same allele in a single CF family of Turkish/Syrian descent.
following info was added at Nov 10, 2004 by
Martin J Schwarz PhD MRCPath
Head of Molecular Genetics Laboratory
Royal Manchester Children's Hospital
Hospital Road
Manchester
M27 4HA
England
Tel: +44 (0) 161 727 2567
Fax: +44 (0) 161 727 2328
I would like to add further evidence to Thilo Doerk's submission that the 2752-15C>G sequence variant is a (probably) benign polymorphism. We have seen it in a man of Turkish/Egyptian origin who has W1089X and 2752-15C>G in trans. [He has a child who has F508del and W1089X, but who does not have the 2752-15C>G].
This suggests that the 2752-15C>G variant has no phenotypic effect and does not interfere with fertility.
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Contributors
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Dork T,
Schmidt K,
Tummler B
1994-04-07
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Institute
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Medizinische Hochschule Hannover
Hannova, Germany
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Submitted Phenotype Details
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Reference
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Dörk et al. (NL#62)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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