Mutation Details for c.2476G>A
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cDNA Name
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c.2476G>A
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Protein Name
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p.Glu826Lys
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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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E826K
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Other Details
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The above sequence alteration was found by DGGE analysis of a sarcoidosis patient. It was sequenced and confirmed with a Restriction site Generating PCR assay. It was absent by DGGE analysis in 208 control chromosomes, and by sequencing 60 chromosomes with unknown CFTR mutations.
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Contributors
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Bombieri C,
Benetazzo M G,
Saccomani A,
Pignatti P F
1995-12-05
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Institute
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Institute of Biology and Genetics,
Verona, Italy
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Submitted Phenotype Details
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This individual (F) is 62y and is known to only have sarcoidosis.
No other mutation was found.
(Pers. corr. Bombieri)
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Reference
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Bombieri et al (NL#67)
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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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