Version 2.78

Part Description

LP21193-5   MTHFR gene.c.677C>T
The MTHFR gene (methylenetetrahydrofolate reductase (NAD(P)H)) [HGNC Gene ID:7436] is located on chromosome 1p36.3. The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] [NCBI Gene ID:4524] Two common variants in the MTHFR gene are c.665C>T (also known as c.677C>T, and p.Ala222Val) and c.1298A>C. The 665C>T variant is heat labile, and patients who are homozygous for this variant have higher serum levels of homocysteine and lower levels of folate. Individuals who have one copy of each of the two variants have similar clinical manifestations, while those who are homozygous for 1298A>C do not have elevated homocysteine levels. [NCBI Books: NBK66131] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
MTHFR gene.c.677C>T
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
MTHFR c.677C>T Geno Bld/T
Display Name
MTHFR gene c.677C>T genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
MTHFR gene c.677C>T genotype, Blood or tissue specimen

Example Answer List: LL951-5

Source: Laboratory Corporation of America
Answer Code Score Answer ID
C/C (wild type) LA13521-2
C/T (heterozygous) LA13522-0
T/T (homozygous) LA13523-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.00
Last Updated
Version 2.73
Change Reason
Release 2.67: PROPERTY: Updated Property from PrThr to Geno based on the current LOINC naming model for concepts used to report the patient's genotype for a specific variant; SCALE_TYP: Updated Scale from Ord to Nom based on the current LOINC naming model for concepts used to report the patient's genotype for a specific variant; Previous Releases: Corrected variant to describe it at coding level versus protein level 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. Added Answer list to reflect that this term should be used to report the presence or absence of a single point mutation. This change was approved by the Laboratory LOINC Committee in December 2018.
Order vs. Observation
Both
Common Test Rank Get Info
3000

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: MTHFR-Mut. 677C>T
de-DE German (Germany) MTHFR-Gen c.677C>T:Genotyp:Zeitpunkt:Blut oder Gewebe:Nominal:Molekulargenetisch
es-AR Spanish (Argentina) gen MTHFR.P.C677T:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Polimorfismo C677T del gen MTHFR:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen MTHFR c. 677C> T:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) MTHFR gène mutation c.677C>T:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) MTHFR, gene.c.677C>T:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene MTHFR Gene MTHFR c.677C>T Genetica molecolare Genotipo Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) MTHFR 유전자.p.C677T:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) MTHFR-gen.c.677C>T:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen MTHFR gen MTHFR gen.c.677C>T
pt-BR Portuguese (Brazil) MTHFR gene.p.C677T:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; MTHFR p.C677T; Vascular risk; NADPH; 5,10-methylenetetrahydrofolate reductase gene; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
zh-CN Chinese (China) MTHFR 基因.c.677C>T:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 5,10-亚甲基四氢叶酸还原酶基因;NADPH;血管危险(Vascular risk);血管风险(Vascular risk);还原型烟酰胺腺嘌呤二核苷酸磷酸;还原型辅酶 II C 型;丙;丙型 MTHFR c.C677T 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=28005-7