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PRRT2 c.824C>T ;(p.S275F)
Variant ID: 16-29825199-C-T
NM_145239.2(
PRRT2
):c.824C>T;(p.S275F)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.
Cns Neuroscience & Therapeutics
Zhao, Shao-Yun SY; Li, Li-Xi LX; Chen, Yu-Lan YL; Chen, Yi-Jun YJ; Liu, Gong-Lu GL; Dong, Hai-Lin HL; Chen, Dian-Fu DF; Li, Hong-Fu HF; Wu, Zhi-Ying ZY
Publication Date: 2020-01
Variant appearance in text: PRRT2: 824C>T
PubMed Link:
31124310
Variant Present in the following documents:
Main text
CNS-26-39.pdf
View BVdb publication page
A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.
Movement Disorders Clinical Practice
Kita, Makoto M; Kuwata, Yasuhiro Y; Murase, Nagako N; Akiyama, Yuichi Y; Usui, Takeshi T
Publication Date: 2017
Variant appearance in text: PRRT2: S275F
PubMed Link:
30713971
Variant Present in the following documents:
Main text
View BVdb publication page
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
Bmc Neurology
Yang, Xiaoling X; Zhang, Yuehua Y; Xu, Xiaojing X; Wang, Shuang S; Yang, Zhixian Z; Wu, Ye Y; Liu, Xiaoyan X; Wu, Xiru X
Publication Date: 2013-12-26
Variant appearance in text: ICCA: 824C>T
PubMed Link:
24370076
Variant Present in the following documents:
1471-2377-13-209-S2.xlsx, sheet 1
View BVdb publication page