Annotation Detail
Information
- Associated Genes
- CIITA
- Associated Variants
-
CIITA p.Gly501Ala (p.G501A)
(
ENST00000618327.4,
ENST00000324288.14,
ENST00000381835.9 )
CIITA p.Gly501Ala (p.G501A) ( ENST00000324288.14, ENST00000381835.9, ENST00000618327.4 ) - Associated Disease
- MHC class II deficiency
- Source Database
- ClinVar
- Description
- NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) AND MHC class II deficiency
- ClinVar Allele ID
- 333640
- ClinVar RefSeq Alternation Syntax
- NM_001379331.1:c.1352G>C
- ClinVar RefSeq Alternation Syntax
- NM_001379330.1:c.1355G>C
- ClinVar RefSeq Alternation Syntax
- NM_001379334.1:c.1430G>C
- ClinVar RefSeq Alternation Syntax
- NM_001379333.1:c.1499G>C
- ClinVar RefSeq Alternation Syntax
- NM_000246.4:c.1499G>C
- ClinVar RefSeq Alternation Syntax
- NM_001286402.1:c.1502G>C
- ClinVar RefSeq Alternation Syntax
- NM_001286403.2:c.860-1992G>C
- ClinVar RefSeq Alternation Syntax
- NM_001379332.1:c.1502G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000378352
- ClinVar Disease
- MHC class II deficiency
- Observed Origin Sample
- germline
Drugs