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
- GALT POLYMORPHISM (DUARTE, D2)
- Source Database
- ClinVar
- Description
- NM_000155.4(GALT):c.940A>G (p.Asn314Asp) AND GALT POLYMORPHISM (DUARTE, D2)
- ClinVar Allele ID
- 18652
- ClinVar RefSeq Alternation Syntax
- NM_000155.4:c.940A>G
- ClinVar RefSeq Alternation Syntax
- NM_001258332.2:c.613A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2009-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003797
- ClinVar Disease
- GALT POLYMORPHISM (DUARTE, D2)
- Observed Origin Sample
- germline
- Pubmed
- 9012409
- Pubmed
- 19224951
- Pubmed
- 8892021
- Pubmed
- 11261429
- Pubmed
- 11479743
- Pubmed
- 7550229
- Pubmed
- 8198125
- Pubmed
- 2011574
- Pubmed
- 10424825
Drugs