TTR FGA APOA1 APOA2 LYZ GSN B2M Cystatin Home Back

 
TTR Mutation Form    
* Full Name: Example:
* Email Address:  
* Protein Variant: Leu12Pro (p.Leu32Pro)
* Sequence Variant (cDNA):

c.95T>C

* Codon Change:

CTG>CCG

* Location:

Exon 2

* Reported Phenotype:

Liver, leptomeningeal

* Ethnic Group:

British

* Histological confirmation of amyloid  by Congo red:

Yes  

  If Yes specify the tissue:

 

* Confirmation of fibril type:

Yes  

If Yes which method:

Immunohistochemistry LMD/MS

 
  Other  
References: