GAA c.1827del ;(p.Y609*)

Variant ID: 17-78086449-AC-A

NM_000152.3(GAA):c.1827del;(p.Y609*)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GAA: 1827del; Tyr609Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Hepatology Communications
Sobel Naveh, Natali S NS; Traxler, Emily M EM; Duffy, Kelly A KA; Kalish, Jennifer M JM
Publication Date: 2022-08

Variant appearance in text: GAA: 1827delC; Y609*; rs781088002
PubMed Link: 35507738
Variant Present in the following documents:
  • HEP4-6-2132-s005.xlsx, sheet 1
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: GAA: 1827delC
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Metabolites
Saville, Jennifer T JT; Fuller, Maria M
Publication Date: 2021-07-08

Variant appearance in text: GAA: 1827delC; Tyr609*
PubMed Link: 34357340
Variant Present in the following documents:
  • Main text
  • metabolites-11-00446.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GAA: 1827delC; Tyr609Ter; rs781088002
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.

Nature Communications
Carlson-Stevermer, Jared J; Das, Amritava A; Abdeen, Amr A AA; Fiflis, David D; Grindel, Benjamin I BI; Saxena, Shivani S; Akcan, Tugce T; Alam, Tausif T; Kletzien, Heidi H; Kohlenberg, Lucille L; Goedland, Madelyn M; Dombroe, Micah J MJ; Saha, Krishanu K
Publication Date: 2020-12-08

Variant appearance in text: GAA: 1827delC
PubMed Link: 33293555
Variant Present in the following documents:
  • 41467_2020_20065_MOESM1_ESM.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: 1827del; Tyr609Ter
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Annals Of Clinical And Translational Neurology
Nallamilli, Babi Ramesh Reddy BRR; Chakravorty, Samya S; Kesari, Akanchha A; Tanner, Alice A; Ankala, Arunkanth A; Schneider, Thomas T; da Silva, Cristina C; Beadling, Randall R; Alexander, John J JJ; Askree, Syed Hussain SH; Whitt, Zachary Z; Bean, Lora L; Collins, Christin C; Khadilkar, Satish S; Gaitonde, Pradnya P; Dastur, Rashna R; Wicklund, Matthew M; Mozaffar, Tahseen T; Harms, Matthew M; Rufibach, Laura L; Mittal, Plavi P; Hegde, Madhuri M
Publication Date: 2018-12

Variant appearance in text: GAA: 1827delC
PubMed Link: 30564623
Variant Present in the following documents:
  • Main text
  • ACN3-5-1574.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: 1827delC; Tyr609*
PubMed Link: 29122469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Molecular Genetics And Metabolism Reports
Bali, Deeksha S DS; Goldstein, Jennifer L JL; Rehder, Catherine C; Kazi, Zoheb B ZB; Berrier, Kathryn L KL; Dai, Jian J; Kishnani, Priya S PS
Publication Date: 2015-12-01

Variant appearance in text: GAA: 1827delC; Tyr609X
PubMed Link: 26693141
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS
Publication Date: 2012-02-15

Variant appearance in text: GAA: 1827delC; Tyr609Xfs
PubMed Link: 22252923
Variant Present in the following documents:
  • Main text
View BVdb publication page