Annotation Detail
Information
- Associated Genes
- CD40 LOC127893450
- Associated Variants
-
CD40 p.Met1= (p.M1=)
(
ENST00000372276.7,
ENST00000372285.8,
ENST00000695671.1 )
CD40 p.Met1= (p.M1=) ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 ) - Associated Disease
- Hyper-IgM syndrome type 3
- Source Database
- ClinVar
- Description
- NM_001250.6(CD40):c.-1T>C AND Hyper-IgM syndrome type 3
- ClinVar Allele ID
- 350035
- ClinVar RefSeq Alternation Syntax
- NM_001250.6:c.-1T>C
- ClinVar RefSeq Alternation Syntax
- NM_001322422.2:c.-1T>C
- ClinVar RefSeq Alternation Syntax
- NM_152854.4:c.-1T>C
- ClinVar RefSeq Alternation Syntax
- NR_136327.2:n.30T>C
- ClinVar RefSeq Alternation Syntax
- NM_001362758.2:c.-1T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302753.2:c.-1T>C
- ClinVar RefSeq Alternation Syntax
- NM_001322421.2:c.-1T>C
- ClinVar RefSeq Alternation Syntax
- NR_126502.2:n.30T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000608869
- ClinVar Disease
- Hyper-IgM syndrome type 3
- Observed Origin Sample
- germline
Drugs