IDH1 c.414+542C>T

Variant ID: 2-209112551-G-A

NM_005896.2(IDH1):c.414+542C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: IDH1: 414+542C>T; rs6435435
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS).

Plos One
Gao, Chuan C; Wang, Nan N; Guo, Xiuqing X; Ziegler, Julie T JT; Taylor, Kent D KD; Xiang, Anny H AH; Hai, Yang Y; Kridel, Steven J SJ; Nadler, Jerry L JL; Kandeel, Fouad F; Raffel, Leslie J LJ; Chen, Yii-Der I YD; Norris, Jill M JM; Rotter, Jerome I JI; Watanabe, Richard M RM; Wagenknecht, Lynne E LE; Bowden, Donald W DW; Speliotes, Elizabeth K EK; Goodarzi, Mark O MO; Langefeld, Carl D CD; Palmer, Nicholette D ND
Publication Date: 2015

Variant appearance in text: rs6435435
PubMed Link: 26599207
Variant Present in the following documents:
  • Main text
  • pone.0134649.pdf
View BVdb publication page



IDH1 p.R132 mutations may not be actively involved in the carcinogenesis of hepatocellular carcinoma.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Lu, Jun J; Xu, Ling L; Zou, Yang Y; Yang, Run-Xiang RX; Fan, Yu Y; Zhang, Wen W; Yu, Dandan D; Yao, Yong-Gang YG
Publication Date: 2014-02-14

Variant appearance in text: rs6435435
PubMed Link: 24531386
Variant Present in the following documents:
  • Main text
  • medscimonit-20-247.pdf
View BVdb publication page