Mutation Details for c.1675G>C
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.1675G>C
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Protein Name
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p.Ala559Pro
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Exon or Intron
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Other Details
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Contributors and Institutes
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error reading database
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Submitted Phenotype Details
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CF newborn (age 17 days) Mexican patient with consanguineous parents, which was identified through newborn screening program (Elevated IRT blood concentrations in two measurements).
Sweat chloride value: 257 mmol/L.
Clinical follow-up unavailable.
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Reference
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Ibarra-González I et al., J Med Screen. 2017 doi:10.1177/0969141317722808.
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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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