Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Lys256del (p.K256del)
(
ENST00000376585.6,
ENST00000376583.7,
ENST00000423400.7,
ENST00000641820.1,
ENST00000376590.9,
ENST00000641407.1,
ENST00000376592.6 )
MTHFR p.Lys256del (p.K256del) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Source Database
- ClinVar
- Description
- NM_005957.5(MTHFR):c.643_645del (p.Lys215del) AND Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ClinVar Allele ID
- 185785
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.643_645del
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.766_768del
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-10-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000167598
- ClinVar Disease
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Observed Origin Sample
- germline
Drugs