Mutation Details for c.2769C>T
|
cDNA Name
|
c.2769C>T
|
Exon or Intron
|
exon 17
|
Legacy Exon or Intron
|
exon 15
|
|
2901C/T
|
Other Details
|
Ala at 923 (no change)
|
Contributors
|
Edkins E,
Creegan R
1993-12-03
|
Institute
|
Princess Margaret Hospital for Children
Perth, Australia
|
Submitted Phenotype Details
|
|
Reference
|
Edkins & Creegan (NL#60)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|