GAA c.1450T>C ;(p.S484P)

Variant ID: 17-78084538-T-C

NM_000152.3(GAA):c.1450T>C;(p.S484P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj
Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A
Publication Date: 2021

Variant appearance in text: GAA: S484P
PubMed Link: 33552729
Variant Present in the following documents:
  • peerj-09-10711-s004.xlsx, sheet 1
View BVdb publication page



Loss of Dnmt3a Immortalizes Hematopoietic Stem Cells In Vivo.

Cell Reports
Jeong, Mira M; Park, Hyun Jung HJ; Celik, Hamza H; Ostrander, Elizabeth L EL; Reyes, Jaime M JM; Guzman, Anna A; Rodriguez, Benjamin B; Lei, Yong Y; Lee, Yeojin Y; Ding, Lei L; Guryanova, Olga A OA; Li, Wei W; Goodell, Margaret A MA; Challen, Grant A GA
Publication Date: 2018-04-03

Variant appearance in text: GAA: 1450T>C
PubMed Link: 29617651
Variant Present in the following documents:
  • NIHMS958971-supplement-5.xlsx, sheet 2
View BVdb publication page