PIK3CA c.280C>G ;(p.L94V)

Variant ID: 3-178916893-C-G

NM_006218.2(PIK3CA):c.280C>G;(p.L94V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

Nature Genetics
Lindhurst, Marjorie J MJ; Parker, Victoria E R VE; Payne, Felicity F; Sapp, Julie C JC; Rudge, Simon S; Harris, Julie J; Witkowski, Alison M AM; Zhang, Qifeng Q; Groeneveld, Matthijs P MP; Scott, Carol E CE; Daly, Allan A; Huson, Susan M SM; Tosi, Laura L LL; Cunningham, Michael L ML; Darling, Thomas N TN; Geer, Joseph J; Gucev, Zoran Z; Sutton, V Reid VR; Tziotzios, Christos C; Dixon, Adrian K AK; Helliwell, Timothy T; O'Rahilly, Stephen S; Savage, David B DB; Wakelam, Michael J O MJ; Barroso, InĂªs I; Biesecker, Leslie G LG; Semple, Robert K RK
Publication Date: 2012-06-24

Variant appearance in text: PIK3CA: 280C>G
PubMed Link: 22729222
Variant Present in the following documents:
  • Main text
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