Variant (rsID / SNP)
rs3733890
rs3733890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BHMT. Location: chromosome 5, position 78,421,959. The table records no clinical significance for this variant.
Reference-table entries
- Variant type
- missense_variant
- Chromosome / position
- 5:78421959
- HGVS
- NM_001713.3,c.716G>A,p.Arg239Gln
- Allele change
- Missense_R239Q
Associated conditions / phenotypes
Hyperhomocysteinemia|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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.