Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Trp602Ter (p.W602*)
(
ENST00000376585.6,
ENST00000376583.7,
ENST00000423400.7,
ENST00000641820.1,
ENST00000376590.9,
ENST00000376592.6,
ENST00000641407.1 )
MTHFR p.Trp602Ter (p.W602*) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- neural tube defect
- Source Database
- ClinVar
- Description
- NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) AND Neural tube defect
- ClinVar Allele ID
- 185765
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.1806G>A
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.1683G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2012-02-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000709684
- ClinVar Disease
- Neural tube defect
- Observed Origin Sample
- inherited
Drugs