Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Gly354Ala (p.G354A)
(
ENST00000376585.6,
ENST00000641820.1,
ENST00000423400.7,
ENST00000376583.7,
ENST00000376590.9,
ENST00000376592.6,
ENST00000641407.1 )
MTHFR p.Gly354Ala (p.G354A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- vascular dementia
- Source Database
- ClinVar
- Description
- NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala) AND Vascular dementia
- ClinVar Allele ID
- 1291812
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.938G>C
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.1061G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002051761
- ClinVar Disease
- Vascular dementia
- Observed Origin Sample
- germline
Drugs