Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Ala154Ser (p.A154S)
(
ENST00000376583.7,
ENST00000423400.7,
ENST00000376585.6,
ENST00000376592.6,
ENST00000641407.1,
ENST00000376590.9 )
MTHFR p.Ala154Ser (p.A154S) ( 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.337G>T (p.Ala113Ser) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ClinVar Allele ID
- 1333768
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.337G>T
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.460G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001838859
- ClinVar Disease
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Observed Origin Sample
- inherited
Drugs