GAA c.2236T>C ;(p.W746R)

Variant ID: 17-78090813-T-C

NM_000152.3(GAA):c.2236T>C;(p.W746R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

Frontiers In Immunology
De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS
Publication Date: 2021

Variant appearance in text: GAA: 2236T>C
PubMed Link: 34220802
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Newborn Screening for Pompe Disease: Pennsylvania Experience.

International Journal Of Neonatal Screening
Ficicioglu, Can C; Ahrens-Nicklas, Rebecca C RC; Barch, Joshua J; Cuddapah, Sanmati R SR; DiBoscio, Brenda S BS; DiPerna, James C JC; Gordon, Patricia L PL; Henderson, Nadene N; Menello, Caitlin C; Luongo, Nicole N; Ortiz, Damara D; Xiao, Rui R
Publication Date: 2020-11-13

Variant appearance in text: GAA: 2236T>C
PubMed Link: 33202836
Variant Present in the following documents:
  • Main text
  • IJNS-06-00089.pdf
View BVdb publication page



Lessons Learned from Pompe Disease Newborn Screening and Follow-up.

International Journal Of Neonatal Screening
Klug, Tracy L TL; Swartz, Lori B LB; Washburn, Jon J; Brannen, Candice C; Kiesling, Jami L JL
Publication Date: 2020-03

Variant appearance in text: GAA: 2236T>C
PubMed Link: 33073009
Variant Present in the following documents:
  • Main text
  • IJNS-06-00011.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GAA: W746R
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.

Heliyon
Puentes-Tellez, María Alejandra MA; Lerma-Barbosa, Paula Andrea PA; Garzón-Jaramillo, Rafael Guillermo RG; Suarez, Diego A DA; Espejo-Mojica, Angela J AJ; Guevara, Johana M JM; Echeverri, Olga Yaneth OY; Solano-Galarza, Daniela D; Uribe-Ardila, Alfredo A; Alméciga-Díaz, Carlos J CJ
Publication Date: 2020-03

Variant appearance in text: GAA: W746R
PubMed Link: 32258481
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.

International Journal Of Neonatal Screening
Hall, Patricia L PL; Sanchez, Rossana R; Hagar, Arthur F AF; Jerris, S Caleb SC; Wittenauer, Angela A; Wilcox, William R WR
Publication Date: 2020-03

Variant appearance in text: GAA: 2236T>C; Trp746Arg
PubMed Link: 32064362
Variant Present in the following documents:
  • Main text
  • IJNS-06-00002.pdf
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 2236T>C
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
  • HUMU-40-2146.pdf
View BVdb publication page



Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism
Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS
Publication Date: 2017-12

Variant appearance in text: GAA: 2236T>C; Trp746Arg
PubMed Link: 29122469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Jimd Reports
Niño, Mónica Yasmín MY; Mateus, Heidi Eliana HE; Fonseca, Dora Janeth DJ; Kroos, Marian A MA; Ospina, Sandra Yaneth SY; Mejía, Juan Fernando JF; Uribe, Jesús Alfredo JA; Reuser, Arnold J J AJ; Laissue, Paul P
Publication Date: 2013

Variant appearance in text: GAA: 2236T>C; Trp746Arg
PubMed Link: 23430493
Variant Present in the following documents:
  • Main text
View BVdb publication page