Mutation Details for c.1505T>C
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cDNA Name
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c.1505T>C
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Protein Name
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p.Ile502Thr
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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I502T
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Other Details
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This substitution abolishes an MseI site. The french CF patient is homozygous for this misense
mutation. These are the only ones out of 1460 CF chromosomes screened.
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Contributors
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Chevalier-Porst F,
Bozon D
1998-07-13
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Institute
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Biochimie, Bat D,
Hopital Debrousse, Lyon, France
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Submitted Phenotype Details
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This individual (F) is 40y. No clinical inforation is available about this woman.
She is homozygous for I502T.
(Pers. corr. Bozon)
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Reference
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Chevalier-Porst & Bozon (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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