Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Arg224Gln (p.R224Q)
(
ENST00000641407.1,
ENST00000376592.6,
ENST00000376590.9,
ENST00000423400.7,
ENST00000376583.7,
ENST00000376585.6 )
MTHFR p.Arg224Gln (p.R224Q) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) AND not provided
- ClinVar Allele ID
- 185787
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.671G>A
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.548G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-07-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000993916
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs