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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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