Mutation Details for c.3061C>T
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cDNA Name
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c.3061C>T
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Protein Name
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p.Pro1021Ser
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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P1021S
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Other Details
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The P1021S mutation has been detected by SSCA and direct sequencing. The mutation was identified in a Spanish man with CBAVD carrying a [delta]F508 on the other chromosome.
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Nunes V,
Estivill X
1997-04-16
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Institute
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IRO,
Spain
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Submitted Phenotype Details
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Patient (M) has PS and CBAVD.
DeltaF508 was found on the other allele.
(Pers. corr. Casals)
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Reference
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Casals et al. (NL#69)
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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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