FAT1 c.7359C>T ;(p.H2453=)

Variant ID: 4-187540381-G-A

NM_005245.3(FAT1):c.7359C>T;(p.H2453=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Frontiers In Oncology
Butz, Henriett H; Lövey, József J; Szentkereszty, Márton M; Bozsik, Anikó A; Tóth, Erika E; Patócs, Attila A
Publication Date: 2022

Variant appearance in text: FAT1: 7359C>T; H2453H; rs187778747
PubMed Link: 35419288
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: FAT1: 7359C>T; H2453H; rs187778747
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page