IDH1 c.396T>G ;(p.R132=)

Variant ID: 2-209113111-A-C

NM_005896.2(IDH1):c.396T>G;(p.R132=)

This variant was identified in 3 publications

View GRCh38 version.



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

Publications:

Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: IDH1: R132R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page


Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Acta Neuropathologica Communications
Salloum, Ralph R; McConechy, Melissa K MK; Mikael, Leonie G LG; Fuller, Christine C; Drissi, Rachid R; DeWire, Mariko M; Nikbakht, Hamid H; De Jay, Nicolas N; Yang, Xiaodan X; Boue, Daniel D; Chow, Lionel M L LML; Finlay, Jonathan L JL; Gayden, Tenzin T; Karamchandani, Jason J; Hummel, Trent R TR; Olshefski, Randal R; Osorio, Diana S DS; Stevenson, Charles C; Kleinman, Claudia L CL; Majewski, Jacek J; Fouladi, Maryam M; Jabado, Nada N
Publication Date: 2017-10-30

Variant appearance in text: IDH1: R132R
PubMed Link: 29084603
Variant Present in the following documents:
  • 40478_2017_479_MOESM2_ESM.xlsx, sheet 6
  • 40478_2017_479_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page


Mutation Analysis of Isocitrate Dehydrogenase (IDH1/2) and DNA Methyltransferase 3A (DNMT3A) in Thai Patients with Newly Diagnosed Acute Myeloid Leukemia

Asian Pacific Journal Of Cancer Prevention : Apjcp
Sirirat, Tanasan T; Chuncharunee, Suporn S; Nipaluk, Pimjai P; Siriboonpiputtana, Teerapong T; Chareonsirisuthigul, Takol T; Limsuwannachot, Nittaya N; Rerkamnuaychoke, Budsaba B
Publication Date: 2017-02-01

Variant appearance in text: IDH1: R132R
PubMed Link: 28345823
Variant Present in the following documents:
  • Main text
  • APJCP-18-413.pdf
View BVdb publication page