TREML1 c.620T>C ;(p.M207T)

Variant ID: 6-41118000-A-G

NM_178174.3(TREML1):c.620T>C;(p.M207T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: TREML1: M207T
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc3.xlsx, sheet 32
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: TREML1: 620T>C; Met207Thr
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: TREML1: M207T; rs35929443
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 35
View BVdb publication page