GAA c.2655_2656del ;(p.V886Efs*2)

Variant ID: 17-78092460-TCG-T

NM_000152.3(GAA):c.2655_2656del;(p.V886Efs*2)

This variant was identified in 3 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 2655_2656del
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: 2655_2656del
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page


Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Annals Of Translational Medicine
Alandy-Dy, Jousef J; Wencel, Marie M; Hall, Kathy K; Simon, Julie J; Chen, Yanjun Y; Valenti, Erik E; Yang, Jade J; Bali, Deeksha D; Lakatos, Anita A; Goyal, Namita N; Mozaffar, Tahseen T; Kimonis, Virginia V
Publication Date: 2019-07

Variant appearance in text: GAA: 2655_2656delCG; Val886Glufs*2
PubMed Link: 31392188
Variant Present in the following documents:
  • Main text
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: 2655_2656del
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
View BVdb publication page