Annotation Detail

Information
Associated Genes
AIRE
Associated Variants
AIRE p.Trp78Arg (p.W78R) ( ENST00000291582.6 )
AIRE p.Trp78Arg (p.W78R) ( ENST00000291582.6 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000383.4(AIRE):c.232T>A (p.Trp78Arg) AND not provided
ClinVar Allele ID
79111
ClinVar RefSeq Alternation Syntax
NM_000383.4:c.232T>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000059054
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs