LP265316-2
KIT gene.c.2447A>T
Active
Description
The D816V (c.2447A>T) mutation in exon 17 of the KIT gene on chromosome 4 is associated with systemic mastocytosis (SM) and less commonly gastrointestinal stromal tumors (GIST), acute myeloid leukemia (AML), and germ cell tumors. PMID: 21354053 The vast majority of patients with SM carry the somatic D816V mutation. According to the World Health Organization, the presence of the mutation is one of the minor criteria for a diagnosis of SM. PMID: 28031180 The presence of D816V in multiple cells lines, including mast cells, bone marrow myeloid cells, and lymphoid cells, is also associated with a greater risk of disease progression. PMID: 24750133 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- KIT gene c.2447A>T
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2017-12-20
- Construct for LOINC Short Name
- KIT c.2447A>T
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP265316-2
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | KIT-gen.c.2447A>T |
| it-IT | Italian (Italy) | KIT, gene.c.2447A>T Synonyms: Gene KIT.c.2447A>T |
| zh-CN | Chinese (China) | KIT 基因.c.2447A>T |
| es-ES | Spanish (Spain) | Gen KIT c.2447A>T |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright