Mutation Details for c.148T>C
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cDNA Name
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c.148T>C
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Protein Name
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p.Ser50Pro
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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S50P
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Other Details
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Abnormal pattern in SSCA exon 2 was observed for I50T. Direct sequence of the sample allowed us to detect this new mutation. This mutation was observed in a Spanish man with CBAVD, carrying DE115 in the other chromosome.
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Contributors
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Casals T,
Gimenez J,
Ramos MD,
Nunes V,
Estivill X
1995-01-31
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Institute
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Institute de Recerca Oncologica
Barcelona, Spain
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Submitted Phenotype Details
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This mutation was found in 2 patients, both males.
1. Patient is 32y, has PS, sweat chloride levels of 74mmM/l and CBAVD.
E115del was found on the other chromosome.
2. Patient has CBAVD, no other information is known about this individual.
(Pers. corr. Casals)
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Reference
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Casals et al. (NL #65)
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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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