Mutation Details for c.2856G>C
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cDNA Name
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c.2856G>C
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Protein Name
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p.Met952Ile
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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M952I
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Other Details
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The above 2 mutations were discovered by DGGE and identified by direct sequencing. M952I was found in a
CBAVD patient who also carries R117H but it was unclear if the 2 mutations were located on different chromosomes due to the lack of family members. Other CFTR gene regions also remain to be examined. The mutation status of M952I is thus tentative.
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Contributors
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Girodon E,
Costes B,
Cazeneuve C,
Ghanem N,
Goossens M
1995-11-10
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Institute
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Hopital Henri Mondor,
Creteil, France
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Submitted Phenotype Details
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This mutation was reported in two patient.
1. Patient (M) has CBAVD.
2. Patient (M) is >8y, has PI, severe lung disease and elevated sweat-chloride levels (95mM/l). The other mutation(s) in these patients are unknown.(Desgeorges et al. 1997)
M952I was found in a 40y old male diagnosed at 32y with CBAVD. He carries R117H on the other allele.(pers. corr. Girodon)
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Reference
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Girodon 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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