Annotation Detail
Information
- Associated Genes
- SHMT1
- Associated Variants
-
SHMT1 p.Leu474Phe (p.L474F)
(
ENST00000316694.8,
ENST00000354098.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_004169.5(SHMT1):c.1420C>T (p.Leu474Phe) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 167454
- ClinVar RefSeq Alternation Syntax
- NM_001281786.2:c.1006C>T
- ClinVar RefSeq Alternation Syntax
- NM_004169.5:c.1420C>T
- ClinVar RefSeq Alternation Syntax
- NM_148918.3:c.1303C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144920
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- germline
Drugs