PRRT2 c.697_699delinsTGG ;(p.S233W)

Variant ID: 16-29825072-AGT-TGG

NM_145239.2(PRRT2):c.697_699delinsTGG;(p.S233W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: S233W
PubMed Link: 30713971
Variant Present in the following documents:
  • Main text
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