Mutation Details for c.1801A>T
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cDNA Name
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c.1801A>T
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Protein Name
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p.Ile601Phe
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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I601F
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and identified by
direct DNA sequencing. I601F was seen only once in over 100 non-[delta]F508 CF
chromosomes screened. The patient , who was referred by West Midlands Regional Genetics
Service, is heterozygous for the G542X mutation.
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Contributors
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Schwartz M,
Haworth A,
Malone G
1996-03-08
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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The mutation was identified in a PS patient carrying G542X on the other allele.
(pers corr. Schwarz and Vankeerberghen et all 1998)
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Reference
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Schwarz et al. (NL#68)
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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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