TBX6 c.28T>G ;(p.S10A)

Variant ID: 16-30102487-A-C

NM_004608.3(TBX6):c.28T>G;(p.S10A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.

American Journal Of Human Genetics
Sharo, Andrew G AG; Hu, Zhiqiang Z; Sunyaev, Shamil R SR; Brenner, Steven E SE
Publication Date: 2022-02-03

Variant appearance in text: TBX6: S10A
PubMed Link: 35032432
Variant Present in the following documents:
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Sequence signatures extracted from proximal promoters can be used to predict distal enhancers.

Genome Biology
Taher, Leila L; Smith, Robin P RP; Kim, Mee J MJ; Ahituv, Nadav N; Ovcharenko, Ivan I
Publication Date: 2013

Variant appearance in text: TBX6: S10A
PubMed Link: 24156763
Variant Present in the following documents:
  • Main text
View BVdb publication page