GAA c.962T>C ;(p.V321A)

Variant ID: 17-78082095-T-C

NM_000152.3(GAA):c.962T>C;(p.V321A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

Turkish Journal Of Medical Sciences
Tuğ Bozdoğan, Sevcan S; Büyükkurt, Selim S; Özer, Sinem S; Bişgin, Atıl A
Publication Date: 2021-04-30

Variant appearance in text: GAA: 962T>C
PubMed Link: 33197157
Variant Present in the following documents:
  • turkjmedsci-51-657.pdf
  • turkjmedsci-51-657-sup001.pdf
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: 962T>C
PubMed Link: 31257730
Variant Present in the following documents:
  • MGG3-7-e840-s001.xls, sheet 1
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: GAA: 962T>C
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Silencing by H-NS potentiated the evolution of Salmonella.

Plos Pathogens
Ali, Sabrina S SS; Soo, Jeremy J; Rao, Chitong C; Leung, Andrea S AS; Ngai, David Hon-Man DH; Ensminger, Alexander W AW; Navarre, William Wiley WW
Publication Date: 2014-11

Variant appearance in text: GAA: V321A
PubMed Link: 25375226
Variant Present in the following documents:
  • Main text
  • ppat.1004500.pdf
View BVdb publication page