Mutation Details for c.3874-19_3874-17delCTT
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cDNA Name
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c.3874-19_3874-17delCTT
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Exon or Intron
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intron 23
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Legacy Exon or Intron
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intron 20
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4006-19del3
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Other Details
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This mutation was found during direct sequencing of exon 21 and is a deletion of 3 baseparts involving the C nucleotide, 4006-19 and two T residues either downstream, epstream or flanking. Only one chromosome has been detected with this mutation in 93 non-[delta]F508 chromosomes (45[delta]F508 chromosomes). The patient involved is of Portugese origin, 27 years old, with a mild CF and pancreatic sufficient.
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Contributors
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Malik N,
Hofmann S,
Morris M,
Buhler E
1991-06-28
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Institute
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Basler Kinderspital Basel
Basler-Basel, Switzerland
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Submitted Phenotype Details
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Reference
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Naseem et al. (NL#36)
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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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