KIT c.1922T>A ;(p.L641H)

Variant ID: 4-55594219-T-A

NM_000222.2(KIT):c.1922T>A;(p.L641H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: L641H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Oncogenic mutations in melanomas and benign melanocytic nevi of the female genital tract.

Journal Of The American Academy Of Dermatology
Tseng, Diane D; Kim, Julie J; Warrick, Andrea A; Nelson, Dylan D; Pukay, Marina M; Beadling, Carol C; Heinrich, Michael M; Selim, Maria Angelica MA; Corless, Christopher L CL; Nelson, Kelly K
Publication Date: 2014-08

Variant appearance in text: KIT: L641H
PubMed Link: 24842760
Variant Present in the following documents:
  • Main text
View BVdb publication page