GAA c.2843dup ;(p.V949Rfs*69)

Variant ID: 17-78093113-C-CT

NM_000152.3(GAA):c.2843dup;(p.V949Rfs*69)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 2843dup; Val949Argfs*69
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 2843dup; Val949Argfs*69
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

Orphanet Journal Of Rare Diseases
Peng, Steven Shinn-Forng SS; Hwu, Wuh-Liang WL; Lee, Ni-Chung NC; Tsai, Fuu-Jen FJ; Tsai, Wen-Hui WH; Chien, Yin-Hsiu YH
Publication Date: 2016-05-17

Variant appearance in text: GAA: 2842insT
PubMed Link: 27183828
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_446.pdf
View BVdb publication page