Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.3376_3381delGAAGGA
Protein Name
p.Glu1126_Gly1127del
Exon or Intron
Other Details
Contributors and Institutes
Patient
-
self reporting
Submitted Phenotype Details
No abnormal phenotype seen. Female aged 33 years, tested as part of prenatal carrier screening check. No respiratory or digestive issues. South Asian (Indian). Normal glucose tolerance and in good general health.
Reference
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The Database was last updated at Apr 25, 2011
