Mutation Details for c.3915T>A

cDNA Name c.3915T>A 
Protein Name p.Asp1305Glu 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name D1305E 
Other Details This possible mutation was found by DGGE and identified by DNA sequencing in a CBAVD patient who carries [delta]F508 on the other chromosome. It destroys a BstY I restriction site. 
Contributors Claustres M, Guitard C, Desgorges M, Carles S   1997-05-13
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details Patient (M) is is 30y, has PS, no lung disease and CBAVD. DeltaF508 and 3212C>T were both found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al. (NL#69) 

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The Database was last updated at Apr 25, 2011