Mutation Details for c.1584+1G>A
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cDNA Name
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c.1584+1G>A
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Exon or Intron
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intron 11
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Legacy Exon or Intron
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intron 10
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1716+1G->A
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Other Details
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The mutation is found in a Bulgarian CF patient, who has pancreatic sufficiency and
mild pulmonary involvement. The other mutation of the patient is [delta]F508.
(NL# 69)
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Contributors
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Jordanova A,
Savov A,
Angelicheva D,
Kremensky I
1996-06-20
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Institute
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Laboratory of Molecular Pathology,
Sofia, Bulgaria.
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Submitted Phenotype Details
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The patient (8y, female) was diagnosed at 6 months. She had meconium ileus, is PI and sweat chloride 137-146 mmol/l. She carries delF508 on the other allele.
(pers. corr. Jordanova)
The patient (male, 7 y), diagnosed at 4 years of age, is PI, has sweat chloride 130 mmol/l and carries N1303K on the other allele. (pers. corr. Tzetis)
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Reference
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Jordanova et al. (NL#69)
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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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