Annotation Detail

Information
Associated Genes
HLA-DQA1
Associated Variants
HLA-DQA1 p.Phe41Ser (p.F41S) ( ENST00000343139.11, ENST00000374949.2, ENST00000395363.5 )
HLA-DQA1 p.Phe41Ser (p.F41S) ( ENST00000343139.11, ENST00000374949.2, ENST00000395363.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002122.5(HLA-DQA1):c.122T>C (p.Phe41Ser) AND not provided
ClinVar Allele ID
1246786
ClinVar RefSeq Alternation Syntax
NM_002122.5:c.122T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2020-07-15
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001666440
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs