TSC2 c.972C>A ;(p.Y324*)

Variant ID: 16-2108871-C-A

NM_000548.3(TSC2):c.972C>A;(p.Y324*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

Brain Pathology (Zurich, Switzerland)
Qin, Wei W; Chan, Jennifer A JA; Vinters, Harry V HV; Mathern, Gary W GW; Franz, David N DN; Taillon, Bruce E BE; Bouffard, Pascal P; Kwiatkowski, David J DJ
Publication Date: 2010-11

Variant appearance in text: TSC2: Y324X
PubMed Link: 20633017
Variant Present in the following documents:
  • Main text
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