Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Gly212= (p.G212=)
(
ENST00000376585.6,
ENST00000376583.7,
ENST00000423400.7,
ENST00000376590.9,
ENST00000641407.1,
ENST00000376592.6 )
MTHFR p.Gly212= (p.G212=) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 ) - Associated Disease
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Source Database
- ClinVar
- Description
- NM_005957.5(MTHFR):c.513C>A (p.Gly171=) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ClinVar Allele ID
- 683283
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.513C>A
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.636C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000861739
- ClinVar Disease
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Observed Origin Sample
- germline
Drugs