KCNH2 c.2398+234C>A

Variant ID: 7-150647022-G-T

NM_000238.3(KCNH2):c.2398+234C>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy
Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP
Publication Date: 2021-06-17

Variant appearance in text: rs370393086
PubMed Link: 33875422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic modifiers of long-term survival in sickle cell anemia.

Clinical And Translational Medicine
Wonkam, Ambroise A; Chimusa, Emile R ER; Mnika, Khuthala K; Pule, Gift Dineo GD; Ngo Bitoungui, Valentina Josiane VJ; Mulder, Nicola N; Shriner, Daniel D; Rotimi, Charles N CN; Adeyemo, Adebowale A
Publication Date: 2020-08

Variant appearance in text: rs370393086
PubMed Link: 32898326
Variant Present in the following documents:
  • CTM2-10-e152-s001.pdf
View BVdb publication page



Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation.

Frontiers In Neurology
Prüss, Harald H; Gessner, Guido G; Heinemann, Stefan H SH; Rüschendorf, Franz F; Ruppert, Ann-Kathrin AK; Schulz, Herbert H; Sander, Thomas T; Rimpau, Wilhelm W
Publication Date: 2019

Variant appearance in text: rs370393086
PubMed Link: 31293497
Variant Present in the following documents:
  • Main text
  • fneur-10-00648.pdf
View BVdb publication page