PIK3CA c.1353_1364del ;(p.E453_L456del)

Variant ID: 3-178928075-GATTAGAAGATTT-G

NM_006218.2(PIK3CA):c.1353_1364del;(p.E453_L456del)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.

Hgg Advances
Koutlas, Ioannis G IG; Anbinder, Ana-Lia AL; Alshagroud, Rana R; Rodrigues Cavalcante, Ana Sueli AS; Al Kindi, Mohammed M; Crenshaw, Molly M MM; Sapp, Julie C JC; Kondolf, Hannah H; Lindhurst, Marjorie J MJ; Dudley, Jeffrey N JN; Johnston, Jennifer J JJ; Ryan, Elyse E; Rafferty, Keith K; Ganguly, Arupa A; Biesecker, Leslie G LG
Publication Date: 2020-10-22

Variant appearance in text: PIK3CA: 1353_1364del
PubMed Link: 35047831
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue.

Head And Neck Pathology
Gibson, Tanya M TM; Rafferty, Keith K; Ryan, Elyse E; Ganguly, Arupa A; Koutlas, Ioannis G IG
Publication Date: 2021-03

Variant appearance in text: PIK3CA: 1353_1364del; Glu453_Leu456del
PubMed Link: 32500425
Variant Present in the following documents:
  • Main text
View BVdb publication page