GAA c.1846G>A ;(p.D616N)

Variant ID: 17-78086468-G-A

NM_000152.3(GAA):c.1846G>A;(p.D616N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs796161389
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: 1846G>A
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
  • HUMU-40-2146.pdf
View BVdb publication page



Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications
Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G
Publication Date: 2017-10-24

Variant appearance in text: GAA: D616N
PubMed Link: 29061980
Variant Present in the following documents:
  • 41467_2017_1263_MOESM1_ESM.pdf
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: GAA: 1846G>A
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page