TRIM32 c.558G>T ;(p.Q186H)

Variant ID: 9-119460579-G-T

NM_012210.3(TRIM32):c.558G>T;(p.Q186H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: TRIM32: Q186H
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Journal Of Neurology, Neurosurgery, And Psychiatry
Johnson, Katherine K; De Ridder, Willem W; Töpf, Ana A; Bertoli, Marta M; Phillips, Lauren L; De Jonghe, Peter P; Baets, Jonathan J; Deconinck, Tine T; Rakocevic Stojanovic, Vidosava V; Perić, Stojan S; Durmus, Hacer H; Jamal-Omidi, Shirin S; Nafissi, Shahriar S; Mongini, Tiziana T; Łusakowska, Anna A; Busby, Mark M; Miller, James J; Norwood, Fiona F; Hudson, Judith J; Barresi, Rita R; Lek, Monkol M; MacArthur, Daniel G DG; Straub, Volker V
Publication Date: 2019-04

Variant appearance in text: TRIM32: Gln186His
PubMed Link: 29921608
Variant Present in the following documents:
  • jnnp-2018-318288supp001.pdf
View BVdb publication page