Mutation Details for c.1550A>G
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cDNA Name
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c.1550A>G
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Protein Name
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p.Tyr517Cys
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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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Y517C
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Other Details
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The mutation was detected by SSCP analysis and identified by direct DNA sequencing and confirmed by restriction site generated PCR: a modified primer creates a RsaI site, destroyed by the mutation.
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Contributors
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Arduino C,
Brusco A,
Ferrone M,
Piana M R,
Carbonara A
1997-08-06
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Institute
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Servizio di Genetica Medica,
Torino, Italy
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Submitted Phenotype Details
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The patient(female, 8) was diagnosed at birth, with meconium ileus, is PI, sweat chloride 93 mmol/l. 2694delT on the other allele.
(pers.corr.Arduino)
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Reference
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Arduino et al. (NL#70)
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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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