Mutation Details for c.3680T>C
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cDNA Name
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c.3680T>C
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Protein Name
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p.Leu1227Ser
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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L1227S
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Other Details
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This missense mutation in CFTR exon 19 was detected by DGGE and identified by direct sequencing. This nucleotide change T->C at position 3812 (L1227S) in exon 19 was associated with a CUAVD phenotype.
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Contributors
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Dubourg C,
David V
1997-08-25
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Institute
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Laboratoire de Génétique Moléculaire and
Faculté de Medicine
RENNES Cedex
France
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Submitted Phenotype Details
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Patient (M) is >31y, PS, mild lung disease, normal sweat-chloride levels and CUAVD.
3272-26A/G was found on the other allele.
(Pers. corr. Dubourg)
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Reference
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Dubourg & David (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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