Version 2.78

Description

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

Basic Part Properties

Part Display Name
MTHFR gene c.677C>T and c.1298A>C
Part Type
Component (Describes the core component or analyte measured)
Created On
2020-01-30
Construct for LOINC Short Name
MTHFR c.677C>T + 1298A>C

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

CodeSystem lookup
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Language Variants Get Info

Tag Language Translation
nl-NL Dutch (Netherlands) MTHFR-gen c.677C>T & c.1298A>C
zh-CN Chinese (China) MTHFR 基因.c.677C>T & c.1298A>C
it-IT Italian (Italy) MTHFR, gene.c.677C>T & c.1298A>C
Synonyms: Gene MTHFR c.677C>T and c.1298A>C
es-ES Spanish (Spain) Gen MTHFR c.677C> T y c.1298A> C