Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Leu218= (p.L218=)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Leu218= (p.L218=) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000155.4(GALT):c.652C>T (p.Leu218=) AND not specified
- ClinVar Allele ID
- 18659
- ClinVar RefSeq Alternation Syntax
- NM_001258332.2:c.325C>T
- ClinVar RefSeq Alternation Syntax
- NM_000155.4:c.652C>T
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001701572
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs