PDHA1 c.*1013C>A

Variant ID: X-19378784-C-A

NM_000284.3(PDHA1):c.*1013C>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1042456
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs1042456
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Allele-specific analysis of cell fusion-mediated pluripotent reprograming reveals distinct and predictive susceptibilities of human X-linked genes to reactivation.

Genome Biology
Cantone, Irene I; Dharmalingam, Gopuraja G; Chan, Yi-Wah YW; Kohler, Anne-Celine AC; Lenhard, Boris B; Merkenschlager, Matthias M; Fisher, Amanda G AG
Publication Date: 2017-01-25

Variant appearance in text: rs1042456
PubMed Link: 28118853
Variant Present in the following documents:
  • Main text
  • 13059_2016_Article_1136.pdf
View BVdb publication page