PIK3CA c.1349A>G ;(p.H450R)

Variant ID: 3-178928071-A-G

NM_006218.2(PIK3CA):c.1349A>G;(p.H450R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

American Journal Of Medical Genetics. Part A
Gripp, Karen W KW; Baker, Laura L; Kandula, Vinay V; Conard, Katrina K; Scavina, Mena M; Napoli, Joseph A JA; Griffin, Gregory C GC; Thacker, Mihir M; Knox, Rachel G RG; Clark, Graeme R GR; Parker, Victoria E R VE; Semple, Robert R; Mirzaa, Ghayda G; Keppler-Noreuil, Kim M KM
Publication Date: 2016-10

Variant appearance in text: PIK3CA: H450R
PubMed Link: 27191687
Variant Present in the following documents:
  • Main text
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