KIT c.2446_2447delinsCT ;(p.D816L)

Variant ID: 4-55599320-GA-CT

NM_000222.2(KIT):c.2446_2447delinsCT;(p.D816L)

This variant was identified in 3 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: D816L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1.

Annals Of Laboratory Medicine
Lee, Jun Hyung JH; Park, Chungoo C; Kim, Soo Hyun SH; Shin, Myung Geun MG
Publication Date: 2016-07

Variant appearance in text: KIT: D816L
PubMed Link: 27139612
Variant Present in the following documents:
  • Main text
  • alm-36-371.pdf
View BVdb publication page



Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.

The Journal Of Molecular Diagnostics : Jmd
Corless, Christopher L CL; Harrell, Patina P; Lacouture, Mario M; Bainbridge, Troy T; Le, Claudia C; Gatter, Ken K; White, Clifton C; Granter, Scott S; Heinrich, Michael C MC
Publication Date: 2006-11

Variant appearance in text: KIT: D816L
PubMed Link: 17065430
Variant Present in the following documents:
  • Main text
View BVdb publication page