Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Arg376His (p.R376H)
(
ENST00000376592.6,
ENST00000641407.1,
ENST00000376590.9,
ENST00000423400.7,
ENST00000641820.1,
ENST00000376583.7,
ENST00000376585.6 )
MTHFR p.Arg376His (p.R376H) ( ENST00000641407.1, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) AND not specified
- ClinVar Allele ID
- 185777
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.1127G>A
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.1004G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-03-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004526623
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs