Annotation Detail
Information
- Associated Genes
- MYD88
- Associated Variants
-
MYD88 p.Leu260Pro (p.L260P)
(
ENST00000417037.8,
ENST00000421516.3,
ENST00000650112.2,
ENST00000650905.2,
ENST00000651800.2,
ENST00000652213.1 )
MYD88 p.Leu260Pro (p.L260P) ( ENST00000417037.8, ENST00000421516.3, ENST00000650112.2, ENST00000650905.2, ENST00000651800.2, ENST00000652213.1 ) - Associated Disease
- Pyogenic bacterial infections due to MyD88 deficiency
- Source Database
- ClinVar
- Description
- NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Pyogenic bacterial infections due to MyD88 deficiency
- ClinVar Allele ID
- 45735
- ClinVar RefSeq Alternation Syntax
- NM_001365876.1:c.736T>C
- ClinVar RefSeq Alternation Syntax
- NM_001172566.2:c.439T>C
- ClinVar RefSeq Alternation Syntax
- NM_001172569.3:c.574T>C
- ClinVar RefSeq Alternation Syntax
- NM_001374787.1:c.712T>C
- ClinVar RefSeq Alternation Syntax
- NM_002468.5:c.755T>C
- ClinVar RefSeq Alternation Syntax
- NM_001365877.1:c.601T>C
- ClinVar RefSeq Alternation Syntax
- NM_001172567.2:c.779T>C
- ClinVar RefSeq Alternation Syntax
- NM_001172568.2:c.620T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-06-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000646119
- ClinVar Disease
- Pyogenic bacterial infections due to MyD88 deficiency
- Observed Origin Sample
- germline
Drugs