SND1 c.746A>G ;(p.K249R)

Variant ID: 7-127343283-A-G

NM_014390.2(SND1):c.746A>G;(p.K249R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Genes
Hebert, Eva E; Borngräber, Friederike F; Schmidt, Alexander A; Rakovic, Aleksandar A; Brænne, Ingrid I; Weissbach, Anne A; Hampf, Jennie J; Vollstedt, Eva-Juliane EJ; Größer, Leopold L; Schaake, Susen S; Müller, Michaela M; Manzoor, Humera H; Jabusch, Hans-Christian HC; Alvarez-Fischer, Daniel D; Kasten, Meike M; Kostic, Vladimir S VS; Gasser, Thomas T; Zeuner, Kirsten E KE; Kim, Han-Joon HJ; Jeon, Beomseok B; Bauer, Peter P; Altenmüller, Eckart E; Klein, Christine C; Lohmann, Katja K
Publication Date: 2017-10-18

Variant appearance in text: rs140863632
PubMed Link: 29057844
Variant Present in the following documents:
  • genes-08-00276-s001.pdf
View BVdb publication page