Mutation Details for c.307G>T

cDNA Name c.307G>T 
Protein Name p.Gly103X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name G103X 
Other Details This mutation was discovered by SSCP, and sequencing shows a G to T transition at position 439 causing a stop codon in place of a glycine residue. A probe synthesized with the change included showed that the mutation had come from her mother who had, in turn, received it from her mother. The patient is 17 years old and is in reasonably good health. She has a G542X mutation on the other allele. 
Contributors Edkins E, Gray K, Norman D   1992-07-16
Institute Princess Margaret Hospital for Children Perth, Australia 
Submitted Phenotype Details  
Reference Edkins et al. (NL#47) 

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The Database was last updated at Apr 25, 2011