Annotation Detail
Information
- Associated Genes
- MTHFD1
- Associated Variants
-
MTHFD1 p.Lys134Arg (p.K134R)
(
ENST00000557539.2,
ENST00000554768.6,
ENST00000697174.1,
ENST00000545908.6,
ENST00000697173.1,
ENST00000697168.1,
ENST00000652337.1,
ENST00000557370.3 )
MTHFD1 p.Lys134Arg (p.K134R) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 ) - Associated Disease
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- Source Database
- ClinVar
- Description
- NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg) AND Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- ClinVar Allele ID
- 390190
- ClinVar RefSeq Alternation Syntax
- NM_001364837.1:c.401A>G
- ClinVar RefSeq Alternation Syntax
- NM_005956.4:c.401A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001775796
- ClinVar Disease
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- Observed Origin Sample
- germline
Drugs