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