Mutation Details for c.3623delG
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cDNA Name
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c.3623delG
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Protein Name
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p.Gly1208AlafsX3
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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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3755delG
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Other Details
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This mutation was found by DGGE and identified by DNA sequencing in a CF patient from Lebanon. The patient is homozygous for this deletion. The mutation does not modify any restriction site.
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Contributors
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Claustres M,
Pallares N,
Megarbane A.
1998-05-26
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Institute
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Institut de Biologie,
Montpellier
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Submitted Phenotype Details
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The homozygous patient (male, 1y) was diagnosed at 3 months with atypical CF. He is PI and has severe lung disease. (pers. corr. Claustres)
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Reference
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Claustres 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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