TG c.1348del ;(p.S450Pfs*29)

Variant ID: 8-133898965-CT-C

NM_003235.4(TG):c.1348del;(p.S450Pfs*29)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09

Variant appearance in text: TG: 1348delT; S450fs; rs776553164
PubMed Link: 34635181
Variant Present in the following documents:
  • 40364_2021_330_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

Endocrine Connections
Sorapipatcharoen, Kinnaree K; Tim-Aroon, Thipwimol T; Mahachoklertwattana, Pat P; Chantratita, Wasun W; Iemwimangsa, Nareenart N; Sensorn, Insee I; Panthan, Bhakbhoom B; Jiaranai, Poramate P; Noojarern, Saisuda S; Khlairit, Patcharin P; Pongratanakul, Sarunyu S; Suprasongsin, Chittiwat C; Korwutthikulrangsri, Manassawee M; Sriphrapradang, Chutintorn C; Poomthavorn, Preamrudee P
Publication Date: 2020-11

Variant appearance in text: TG: 1348delT; Ser450Profs*29; rs776553164
PubMed Link: 33310921
Variant Present in the following documents:
  • Main text
  • EC-20-0411.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: TG: 1348delT; Ser450fs; rs776553164
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
  • 41422_2020_322_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.

Internal Medicine (Tokyo, Japan)
Mizokami, Tetsuya T; Fukata, Shuji S; Kogai, Takahiko T; Hishinuma, Akira A; Hamada, Katsuhiko K; Maruta, Tetsushi T; Higashi, Kiichiro K; Tajiri, Junichi J
Publication Date: 2019-09-15

Variant appearance in text: TG: 1348delT
PubMed Link: 31178475
Variant Present in the following documents:
  • Main text
  • 1349-7235-58-2669.pdf
View BVdb publication page