GAA c.722T>A ;(p.F241Y)

Variant ID: 17-78081385-T-A

NM_000152.3(GAA):c.722T>A;(p.F241Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

The Journal Of Clinical Investigation
Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G
Publication Date: 2023-06-15

Variant appearance in text: GAA: F241Y
PubMed Link: 37317968
Variant Present in the following documents:
  • jci-133-168156-s148.xlsx, sheet 2
View BVdb publication page



Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03

Variant appearance in text: GAA: 722T>A
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Bioelectric signaling regulates size in zebrafish fins.

Plos Genetics
Perathoner, Simon S; Daane, Jacob M JM; Henrion, Ulrike U; Seebohm, Guiscard G; Higdon, Charles W CW; Johnson, Stephen L SL; Nüsslein-Volhard, Christiane C; Harris, Matthew P MP
Publication Date: 2014-01

Variant appearance in text: GAA: F241Y
PubMed Link: 24453984
Variant Present in the following documents:
  • Main text
View BVdb publication page