Mutation Details for c.1792_1798delAAAACTA
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cDNA Name
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c.1792_1798delAAAACTA
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Protein Name
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p.Lys598GlyfsX11
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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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1924del7
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Other Details
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1924del7 was detected by SSCP. The deletion removes the only restriction site for MaeI in the PCR fragment amplified from 13i-5 and 13i-3A primers. The mutation was found in one Mexican (Mestee) CF patient .Patient : [delta]F508/1924del7; sweat Cl-, 102 mEq/L; pancreatic insufficiency (PI); moderate lung disease.
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Contributors
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Orozco L,
Villarreal T,
Lezana J L,
Zielenski J,
Markiewicz D,
Tsui L-C
1995-01-30
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Institute
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Instituto Nacional de Pediatria,
Mexico and
The Hospital for Sick Children,
Toronto, Canada
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Submitted Phenotype Details
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The mutation was found in one CF patient diagnosed at age 4, who was PI, has swezt chloride 102 mmol/l and moderate pulmonary disease with PA colonization. The patient carries deltaF508 on the other allele.(Orozco et al. 1997)
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Reference
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Orozco et al. (NL#65)
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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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