GAA c.309C>G ;(p.C103W)

Variant ID: 17-78078694-C-G

NM_000152.3(GAA):c.309C>G;(p.C103W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03

Variant appearance in text: GAA: 309C>G
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: GAA: 309C>G
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 2
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: 309C>G; Cys103Trp
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: 309C>G; Cys103Trp
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: GAA: C103W
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13
View BVdb publication page



Characterization of genome-wide variations induced by gamma-ray radiation in barley using RNA-Seq.

Bmc Genomics
Tan, Cong C; Zhang, Xiao-Qi XQ; Wang, Yin Y; Wu, Dianxin D; Bellgard, Matthew I MI; Xu, Yanhao Y; Shu, Xiaoli X; Zhou, Gaofeng G; Li, Chengdao C
Publication Date: 2019-10-29

Variant appearance in text: GAA: 309C>G
PubMed Link: 31664908
Variant Present in the following documents:
  • 12864_2019_6182_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Jimd Reports
Mori, Mari M; Bailey, Lauren A LA; Estrada, Januario J; Rehder, Catherine W CW; Li, Jennifer S JS; Rogers, Joseph G JG; Bali, Deeksha S DS; Buckley, Anne F AF; Kishnani, Priya S PS
Publication Date: 2017

Variant appearance in text: GAA: 309C>G; Cys103Trp
PubMed Link: 27142047
Variant Present in the following documents:
  • Main text
View BVdb publication page