Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Arg87Gln (p.R87Q)
(
ENST00000376585.6,
ENST00000376583.7,
ENST00000376590.9,
ENST00000376592.6,
ENST00000423400.7,
ENST00000641407.1 )
MTHFR p.Arg87Gln (p.R87Q) ( 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.137G>A (p.Arg46Gln) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ClinVar Allele ID
- 185796
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.260G>A
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.137G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000167587
- ClinVar Disease
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Observed Origin Sample
- germline
Drugs