KIT c.1823C>A ;(p.A608D)

Variant ID: 4-55594037-C-A

NM_000222.2(KIT):c.1823C>A;(p.A608D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Tyrosine Kinase Receptors in Oncology.

International Journal Of Molecular Sciences
Esteban-Villarrubia, Jorge J; Soto-Castillo, Juan José JJ; Pozas, Javier J; San Román-Gil, María M; Orejana-Martín, Inmaculada I; Torres-Jiménez, Javier J; Carrato, Alfredo A; Alonso-Gordoa, Teresa T; Molina-Cerrillo, Javier J
Publication Date: 2020-11-12

Variant appearance in text: KIT: A608D
PubMed Link: 33198314
Variant Present in the following documents:
  • ijms-21-08529.pdf
View BVdb publication page



[Chinese Expert Consensus on Next Generation Sequencing Diagnosis 
for Non-small Cell Lung Cancer (2020 Edition)].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
,
Publication Date: 2020-09-20

Variant appearance in text: KIT: A608D
PubMed Link: 32957170
Variant Present in the following documents:
  • zgfazz-23-9-741.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: A608D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A novel KIT mutation in a family with expanded syndrome of piebaldism.

Jaad Case Reports
Hamadah, Issam I; Chisti, Muzamil M; Haider, Mansoor M; Al Dosssari, Haya H; Alhumaidan, Rawan R; Meyer, Brian F BF; Wakil, Salma M SM
Publication Date: 2019-07

Variant appearance in text: KIT: 1823C>A; Ala608Asp
PubMed Link: 31341943
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page