CD4 c.371_372delinsAC ;(p.G124D)

Variant ID: 12-6923464-GA-AC

NM_000616.4(CD4):c.371_372delinsAC;(p.G124D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.

The Journal Of Allergy And Clinical Immunology
Takeda, Andrew J AJ; Zhang, Yu Y; Dornan, Gillian L GL; Siempelkamp, Braden D BD; Jenkins, Meredith L ML; Matthews, Helen F HF; McElwee, Joshua J JJ; Bi, Weimin W; Seeborg, Filiz O FO; Su, Helen C HC; Burke, John E JE; Lucas, Carrie L CL
Publication Date: 2017-10

Variant appearance in text: CD4: G124D
PubMed Link: 28414062
Variant Present in the following documents:
  • Main text
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