Annotation Detail
Information
- Associated Genes
- MTHFD1
- Associated Variants
-
MTHFD1 p.Arg653Gln (p.R653Q)
(
ENST00000557539.2,
ENST00000697174.1,
ENST00000554768.6,
ENST00000697173.1,
ENST00000545908.6,
ENST00000557370.3,
ENST00000652337.1,
ENST00000697168.1 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) AND not specified
- ClinVar Allele ID
- 28672
- ClinVar RefSeq Alternation Syntax
- NM_005956.4:c.1958G>A
- ClinVar RefSeq Alternation Syntax
- NM_001364837.1:c.1958G>A
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2021-12-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000455528
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs