TSC2 c.5291G>A ;(p.S1764N)

Variant ID: 16-2138478-G-A

NM_000548.3(TSC2):c.5291G>A;(p.S1764N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: TSC2: S1764N; rs138831802
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing.

Scientific Reports
Kleftogiannis, Dimitrios D; Ho, Danliang D; Liew, Jun Xian JX; Poon, Polly S Y PSY; Gan, Anna A; Ng, Raymond Chee-Hui RC; Tan, Benita Kiat-Tee BK; Tay, Kiang Hiong KH; Lim, Swee H SH; Tan, Gek San GS; Shih, Chih Chuan CC; Lim, Tony Kiat-Hon TK; Lee, Ann Siew-Gek AS; Tan, Iain Beehuat IB; Yap, Yoon-Sim YS; Ng, Sarah B SB
Publication Date: 2020-10-08

Variant appearance in text: TSC2: S1764N
PubMed Link: 33033274
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_72818.pdf
View BVdb publication page