Name in accordance with the standard nomenclature guidelines (HGVS): c.95T>C
Contributors and Institutes
error reading database
Submitted Phenotype Details
This missense mutation was identified in trans of Phe508del by direct sequencing in a 3 yo. patient with nasal polyposis and positive sweat test (108/117 mmol/L). No symptoms of classical CF were observed (no pancreatic insufficiency and no lung problems)
Reference
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The Database was last updated at Apr 25, 2011
