Annotation Detail

Information
Associated Genes
CIITA
Associated Variants
NC_000016.10:g.10877045G>A
NC_000016.10:g.10877045G>A
Associated Disease
MHC class II deficiency
Source Database
ClinVar
Description
NC_000016.10:g.10877045G>A AND MHC class II deficiency
ClinVar Allele ID
1157596
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-22
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001518204
ClinVar Disease
MHC class II deficiency
Observed Origin Sample
germline
Drugs