GAA c.1240T>C ;(p.F414L)

Variant ID: 17-78082541-T-C

NM_000152.3(GAA):c.1240T>C;(p.F414L)

This variant was identified in 4 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: 1240T>C
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: 1240T>C
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



Molecular profiling of driver events in metastatic uveal melanoma.

Nature Communications
Karlsson, Joakim J; Nilsson, Lisa M LM; Mitra, Suman S; Alsén, Samuel S; Shelke, Ganesh Vilas GV; Sah, Vasu R VR; Forsberg, Elin M V EMV; Stierner, Ulrika U; All-Eriksson, Charlotta C; Einarsdottir, Berglind B; Jespersen, Henrik H; Ny, Lars L; Lindnér, Per P; Larsson, Erik E; Olofsson Bagge, Roger R; Nilsson, Jonas A JA
Publication Date: 2020-04-20

Variant appearance in text: GAA: 1240T>C; F414L
PubMed Link: 32313009
Variant Present in the following documents:
  • 41467_2020_15606_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Molecular Genetics & Genomic Medicine
Katneni, Upendra K UK; Liss, Aaron A; Holcomb, David D; Katagiri, Nobuko H NH; Hunt, Ryan R; Bar, Haim H; Ismail, Amra A; Komar, Anton A AA; Kimchi-Sarfaty, Chava C
Publication Date: 2019-08

Variant appearance in text: GAA: 1240T>C
PubMed Link: 31257730
Variant Present in the following documents:
  • MGG3-7-e840-s001.xls, sheet 1
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GAA: 1240T>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page