GAA c.-32-640C>T

Variant ID: 17-78077714-C-T

NM_000152.3(GAA):c.-32-640C>T

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: rs12600845
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: rs12600845
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



Polymorphisms in metabolism/antioxidant genes may mediate the effect of dietary intake on pancreatic cancer risk.

Pancreas
Jansen, Rick J RJ; Robinson, Dennis P DP; Stolzenberg-Solomon, Rachael Z RZ; Bamlet, William R WR; Tan, XiangLin X; Cunningham, Julie M JM; Li, Ying Y; Rider, David N DN; Oberg, Ann L AL; Rabe, Kari G KG; Anderson, Kristin E KE; Sinha, Rashmi R; Petersen, Gloria M GM
Publication Date: 2013-10

Variant appearance in text: rs12600845
PubMed Link: 24051964
Variant Present in the following documents:
  • Main text
View BVdb publication page