Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Val157Ile (p.V157I)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Val157Ile (p.V157I) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Source Database
- ClinVar
- Description
- NM_000155.4(GALT):c.469G>A (p.Val157Ile) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- ClinVar Allele ID
- 1152415
- ClinVar RefSeq Alternation Syntax
- NM_000155.4:c.469G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258332.2:c.142G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-11-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003609180
- ClinVar Disease
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Observed Origin Sample
- germline
Drugs