Gene entry
BHMT
betaine--homocysteine S-methyltransferase
- Chromosome
- 5
- Cytoband
- 5q14.1
- Variants (rsID)
- 11
BHMT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q14.1). Its official name is “betaine--homocysteine S-methyltransferase”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs3733890Not classifiedmissense_variantHyperhomocysteinemia|Homocysteinemia|Cleft Lip|Colorectal Adenoma|Hepatocellular Carcinoma|Cleft Lip/palate|Cleft Palate, Isolated|Leukemia|Neural Tube Defects|Leukemia, Acute Lymphoblastic|Adult Acute Lymphocytic Leukemia|Cleft Lip with or Without Cleft Palate|Attention Deficit-Hyperactivity Disorder|Myelomeningocele|Anencephaly|Choline Deficiency Disease|Down Syndrome|Omphalocele
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.