Mutation Details for c.38C>T
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cDNA Name
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c.38C>T
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Protein Name
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p.Ser13Phe
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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S13F
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing in a CF patient of Sardinian origin.
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Contributors
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Cao A,
Leoni G,
Rosatelli M
1996-07-03
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Institute
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Istituto di Clinica e Biologia dell'Eta Evolutiva
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Submitted Phenotype Details
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One patient (11,female) diagnosed at 9 years, PS, no lung involvment, sweat chloride 120 mEq/l. Severe mental retardation associated.
T338I on the other allele.
(Leoni et all 1997)
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Reference
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Cao et al. (NL#69)
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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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