Mutation Details for c.1505T>A
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cDNA Name
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c.1505T>A
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Protein Name
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p.Ile502Asn
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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I502N
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Other Details
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This mutation was found in a CF patient whose other mutation is [delta]F508, and we have seen it only once.
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Contributors
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Hinks J,
Brownsell E,
Shaw H,
Malone GM,
Schwarz MJ
2002-01-23
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Institute
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Royal Manchester Children's Hospital
England, United Kingdom
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Submitted Phenotype Details
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One male CF patient, born in 1977, carrying delF508 on the other allele.
(pers.corr. Schwarz)
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Reference
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Hinks et al. 2002
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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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