Mutation Details for c.2602delG
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cDNA Name
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c.2602delG
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Protein Name
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p.Val868X
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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2734G->AT
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Other Details
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The 2734 del G ins AT mutation was detected in an African-American male CF patient. The other CF allele is the [delta]F508 mutation. No clinical information is available to us on this patient.
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Contributors
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Macek MJr,
Mackova A,
Cutting GR
1994-09-28
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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The other CF allele is the [delta]F508 mutation. No clinical information is available to us on this patient.
(pers.corr. Macek)
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Reference
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Macek et al. (NL#64)
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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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