Annotation Detail

Information

Associated Genes: ALDH2
Associated Variants: ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
Associated Disease: AMED syndrome, digenic
Source Database: ClinVar
Description: NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND AMED syndrome, digenic
ClinVar Allele ID: 33429
ClinVar RefSeq Alternation Syntax: NM_000690.4:c.1510G>A
ClinVar RefSeq Alternation Syntax: NM_001204889.2:c.1369G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2010-02-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV001290000
ClinVar Disease: AMED syndrome, digenic
Observed Origin Sample: germline
Pubmed: 7593603
Pubmed: 7180842
Pubmed: 15654505
Pubmed: 4065146
Pubmed: 10780266
Pubmed: 10627091
Pubmed: 17885622
Pubmed: 16046871
Pubmed: 6650498
Pubmed: 8903321
Pubmed: 18056758
Pubmed: 20010786
Pubmed: 33355142
Pubmed: 2987944
Pubmed: 16440063

Drugs