Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Asn314Asp (p.N314D)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Source Database
- ClinVar
- Description
- NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA] AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- ClinVar Allele ID
- 18652
- ClinVar RefSeq Alternation Syntax
- NM_000155.4:c.940A>G
- ClinVar RefSeq Alternation Syntax
- NM_001258332.2:c.613A>G
- ClinVar RefSeq Alternation Syntax
- NM_000155.4:c.-119_-116delGTCA
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-03-09
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000128642
- ClinVar Disease
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Observed Origin Sample
- germline
Drugs