CACNA1H c.1543C>T ;(p.H515Y)

Variant ID: 16-1251993-C-T

NM_021098.2(CACNA1H):c.1543C>T;(p.H515Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Chinese Medical Journal
Liu, Shuang S; You, Yan Y; Chen, Dan D; Qian, Jia-Ming JM; Li, Ji J
Publication Date: 2019-12-20

Variant appearance in text: CACNA1H: H515Y; rs368210728
PubMed Link: 31764169
Variant Present in the following documents:
  • cm9-132-3001-s001.xlsx, sheet 1
View BVdb publication page



Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08

Variant appearance in text: CACNA1H: H515Y
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page