Mutation Details for c.3061C>T

cDNA Name c.3061C>T 
Protein Name p.Pro1021Ser 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name P1021S 
Other Details 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. 
Contributors Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X   1997-04-16
Institute IRO, Spain 
Submitted Phenotype Details Patient (M) has PS and CBAVD. DeltaF508 was found on the other allele. (Pers. corr. Casals) 
Reference Casals et al. (NL#69) 

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The Database was last updated at Apr 25, 2011