49654-7
TPMT gene c.238G>C [Presence] in Blood or Tissue by Molecular genetics method
Active
Part Description
LP64740-1 TPMT gene.c.238G>C
The TPMT gene (thiopurine S-methyltransferase) [HGNC Gene ID:12014] is located on chromosome 6p22.3. This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014] [NCBI Gene ID:7172] Eight known mutations in variants TPMT*2 through *7 account for 90-95% of cases of TPMT deficiency, with four of them, all subtypes of TPMT*3, accounting for 75%. The 8 mutations are as follows: c.238G>C (TPMT*2), c.460G>A and c.719A>G (TPMT*3A), c.460G>A (TPMT*3B), c.719A>G (TPMT*3C), intron 9/exon10 splice junction mutation (TPMT*4), c.146C>T (TPMT*5), c.539A>T (TPMT*6), c.681T>G (TPMT*7). PMID: 11067806
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- TPMT gene.c.238G>C
- Property
- PrThr
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Long Common Name
- TPMT gene c.238G>C [Presence] in Blood or Tissue by Molecular genetics method
- Short Name
- TPMT c.238G>C Bld/T Ql
- Display Name
- TPMT gene c.238G>C Molgen Ql (Bld/Tiss)
- Consumer Name Alpha Get Info
- TPMT gene c.238G>C, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.67 (MIN)
- Change Reason
- Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; Previous Releases: Changed Component part from p.G238C to c.238G>C since variant is located on the coding sequence and to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο TPMT.c.238G>C: Synonyms: C PrThr Γονίδιο Γονίδιο TPMT Γονίδιο TPMT.c.238G> |
| es-ES | Spanish (Spain) | Gen TPMT c.238G>C: |
| es-MX | Spanish (Mexico) | Gen TPMT c.238G> C: |
| fr-FR | French (France) | TPMT gène mutation c.238G>C: |
| it-IT | Italian (Italy) | TPMT, gene.c.238G>C: Synonyms: Farmacogenomica Gene TPMT Gene TPMT c.238G> |
| nl-NL | Dutch (Netherlands) | TPMT-gen.c.238G>C: Synonyms: molgen TPMT gen TPMT gen.c.238G> |
| pt-BR | Portuguese (Brazil) | TPMT gene.p.G238C: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | TPMT ген.c.238G>C: Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | TPMT geni.c.238G>C: Synonyms: Mevcut |
| zh-CN | Chinese (China) | TPMT 基因.c.238G>C: Synonyms: C 型; |
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=49654-7
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