Mutation Details for c.429delT
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cDNA Name
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c.429delT
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Protein Name
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p.Phe143LeufsX10
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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557delT
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Other Details
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This patient was originally though to have a 556 delA mutation as a BgI I site is created; howver, direct sequencing has shown the mutation to be a T deletion. The mutation was found in 1 of 276 CF chromosomes and occurs with an X2K2 haplotype as does the other mutation in this patient.
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Contributors
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Graham C,
Goon PKC,
Hill AJM,
Nevin NC
1991-04-25
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Institute
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Northern Ireland Genetics Service
Belfast, N Ireland
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Submitted Phenotype Details
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Reference
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Graham et al. 1992
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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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