TSC2 c.2468T>C ;(p.L823P)

Variant ID: 16-2124313-T-C

NM_000548.3(TSC2):c.2468T>C;(p.L823P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Bennett, Jennifer A JA; Ordulu, Zehra Z; Pinto, Andre A; Wanjari, Pankhuri P; Antonescu, Cristina R CR; Ritterhouse, Lauren L LL; Oliva, Esther E
Publication Date: 2022-04

Variant appearance in text: TSC2: 2468T>C; Leu823Pro
PubMed Link: 34131293
Variant Present in the following documents:
  • NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx, sheet 1
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