Mutation Details for c.2672A>G
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cDNA Name
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c.2672A>G
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Protein Name
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p.Asp891Gly
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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D891G
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Other Details
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The mutation was detected by DGGE and DNA sequencing. It was observed on one allele of an adult male with only azoospermia.
DGGE primers were generously supplied by the European Community Concerted Action for the Coordination of Cystic Fibrosis Research and Therapy.
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Contributors
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Kilinc O,
Tolun A
1998-11-06
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Institute
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Bogazici University,
Department of Molecular Biology and Genetics,
Istanbul, turkey
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Submitted Phenotype Details
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Tha patient (male)is PI, has moderate lung disease. He carries the 5T mutation on the other allele. The mutation was also identified in azoospermic sons.
(pers. corr. Kilinc)
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Reference
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Kilinc et al. (NL#70)
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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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