Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Ser135Leu (p.S135L)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Ser135Leu (p.S135L) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Source Database
- ClinVar
- Description
- NM_000155.4(GALT):c.404C>T (p.Ser135Leu) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- ClinVar Allele ID
- 18657
- ClinVar RefSeq Alternation Syntax
- NM_001258332.2:c.77C>T
- ClinVar RefSeq Alternation Syntax
- NM_000155.4:c.404C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-03-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003802
- ClinVar Disease
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8551426
Drugs